Tnuki Conference Guide
Who’s Going to ASHG 2026
1,943 labs & companies and 3,124 persons publicly known to be attending ASHG 2026, sourced from program guides, LinkedIn, X, and BlueSky.
Last updated Sep 10 2026•Next Sep 14 2026 ()
| Organization | ASHG 2026 Attendance |
|---|---|
McGill University Montreal, Quebec | 67 PhD Students · 5 Staff Scientists · 4 Postdocs · 4 PIs |
Yoshiji Labyoshiji-lab.org Analyzes genomic, proteomic, Olink HT and electronic health-record data from BioPortal and biobanks. Targets drug discovery and precision medicine for diabetes, obesity and cardiovascular disease.
| Moderator Wed Oct 21 1:30 pm Talk Wed Oct 21 2:07 pm Pathway-specific proteomic aging clocks reveal disease-associated aging programs and protein drivers Complex traitsDiabetesPhenome-wide associationProteomics Talk Wed Oct 21 2:11 pm Population-scale characterization of monogenic diabetes in 374,973 multi-ancestry All of Us participants reveals heterogeneous variant prevalence and variable penetrance DiabetesMendelian disorderRare variantsGenotype-phenotype correlations Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Pathway-specific proteomic aging clocks reveal disease-associated aging programs and protein driversComplex traitsDiabetesPhenome-wide associationProteomics Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Population-scale characterization of monogenic diabetes in 374,973 multi-ancestry All of Us participants reveals heterogeneous variant prevalence and variable penetranceDiabetesGenotype-phenotype correlationsLarge-scale biobanksMendelian disorder Poster Wed Oct 21 2:30 pm Multi-ancestry GWAS of triglyceride-to-HDL ratio in 1.2 million individuals reveals distinct mechanisms of insulin resistance and cardiometabolic risk Genetic epidemiologyGenome-wide association studyMetabolic disorderPolygenic risk score Talk Thu Oct 22 8:30 am Whole-genome sequencing atlas of cardiac and adiposity imaging traits reveals shared and distinct genetic architectures and nominates therapeutic candidates for cardiometabolic disease Cardiovascular systemComplex traitsGenome-wide association studyIdentification of disease genes Poster Thu Oct 22 4:15 pm Plasma proteomic signatures with genetic underpinnings characterize heterogeneity of individuals who develop clinical obesity BioinformaticsComplex diseasesLarge-scale biobanksObesity Poster Fri Oct 23 2:30 pm Whole-genome sequencing association atlas of 55 bone-imaging phenotypes in 67,180 individuals identifies putative effector genes across bone mineral density, bone mineral content, and bone area Endocrine systemGenome-wide association studyLarge-scale biobanksPopulation genetics Poster Fri Oct 23 2:30 pm Bayesian clustering of CAD risk variants captures distinct mechanistic pathways and clinical associations Cardiovascular systemGenetic variationVariant interpretationPolygenic risk score Talk Sat Oct 24 8:45 am Genome-wide polygenic mapping of latent mechanisms underlying type 2 diabetes integrated with CRISPR high-content imaging Complex traitsDiabetesGenetic epidemiologyGenome editing/CRISPR |
Gan-Or Labgba1can.org Generates human cell lines, organoids, animal models, assays and GBA1 genetic, clinical and imaging data. Supports GBA1-targeted treatment development with QPN and C-OPN.
| Moderator Wed Oct 21 11:00 am Poster Wed Oct 21 2:30 pm Shared Genetic Risk Between Hereditary Spastic Paraplegia and Parkinson’s Disease Rare variantsNeurogeneticsNeurodegenerationCandidate gene Poster Wed Oct 21 2:30 pm Lysosomal trafficking disruption in AP-4 deficiency syndrome (SPG52): insights for GBA1-associated Parkinson's disease PathogenesisCellular metabolismClinical geneticsLysosomal diseases Poster Thu Oct 22 4:15 pm Transdiagnostic Pathway-Specific Polygenic Risk Links Brain Structure Across Neuropsychiatric Disorders Large-scale biobanksPsychiatric geneticsNeurogeneticsNeurodevelopmental Poster Thu Oct 22 4:15 pm Poster Thu Oct 22 4:15 pm Machine learning prioritization of GWAS loci identifies novel rare variant associations in Parkinson's disease Machine learningNeurodegenerationNeurogeneticsStatistical genetics Moderator Fri Oct 23 1:30 pm Poster Fri Oct 23 2:30 pm GALC variants affect Glucocerebrosidase to Galactosylceramidase activity ratio Precision medicineQuantitative traitNeurogeneticsLysosomal diseases Poster Fri Oct 23 2:30 pm ARSA c.465+1G>A is a risk variant for Parkinson’s disease. NeurodegenerationRare variantsSplicing mechanismsGenetic variation |
Bourque Labcomputationalgenomics.ca/BourqueLab Analyzes ChIP-seq, RNA-seq, exome, whole-genome and single-cell data. Studies mammalian genomes, regulatory DNA, transposable elements and genome rearrangements in evolution and cancer.
| Poster Wed Oct 21 2:30 pm A Pangenome Approach to Investigate the Epigenetic Regulation of Human Transposable Elements in Polymorphic Regions BioinformaticsEpigeneticsComputational toolsPolymorphism Plenary Thu Oct 22 3:08 pm Long-read sequencing reveals telomere inheritance patterns across human trios and fetal-parental quads with sperm BioinformaticsComputational toolsInheritance patternsLong-read sequencing Poster Fri Oct 23 2:30 pm HLA Genotype Associates with Viral Genome Detection in Whole-Genome Sequencing Data from PEGS cohort Gene environment interactionGenetic variationMicrobiome Poster Fri Oct 23 2:30 pm Characterizing epigenome of melanoma histological subtypes to reveal insights into immunotherapy response CancerEpigeneticsImmune systemBioinformatics |
Greenwood Labmcgill.ca/statisticalgenetics Develops statistical methods for DNA methylation, targeted and whole-genome bisulfite sequencing, genotyping and imputation. Applies them to cancer genomics, microbiome and brain imaging data.
| Poster Thu Oct 22 4:15 pm A Statistical Framework for Detecting Cross-Modality Epigenetic Interactions in Paired Multi-Omics Response Data MethodologyStatistical geneticsMulti-omicsInfectious disease Poster Thu Oct 22 4:15 pm A varying-coefficient mixture-of-experts model for dynamic gene regulation in cortical neurogenesis Gene regulationGenomicsNeurodevelopmentalNeurogenetics Poster Fri Oct 23 2:30 pm Copula regression improves the ability to detect modulation of promoter-enhancer dependence Multi-omicsEpigeneticsRegulation of transcriptionStatistical genetics Poster Fri Oct 23 2:30 pm Simultaneous Evaluation of Multiple Potential Immunoregulatory Cell Types Using Spatial Proteomics Data BioinformaticsCancerImmune systemProteomics |
Rouleau Labmcgill.ca/neuro/people/field_mprofile_research_areas/neurodegenerative_disorders Studies Parkinson disease, ALS and dementias using next-generation sequencing, gene arrays and cellular models. Identifies therapeutic targets for rare movement disorders.
| Poster Wed Oct 21 2:30 pm Single-nucleus transcriptomic profiling of the anterior cingulate cortex in bipolar disorder and schizophrenia BioinformaticsCharacterization of disordersNeurogeneticsPsychiatric genetics Poster Thu Oct 22 4:15 pm Does BACE2 Dysfunction Drive Essential Tremor (ET) Pathology? Insights from a CRISPR-Cas9 iPSC Model NeurodegenerationNon-coding RNAStem cellSingle-cell Poster Fri Oct 23 2:30 pm Single-cell expression QTL analyses of the human cerebellum: expanded cohort deepens evidence for oligodendrocyte vulnerability in essential tremor NeurogeneticsNeurodegenerationSingle-cellRNA-seq Poster Fri Oct 23 2:30 pm Polygenic and spatial insights into the genetic uniqueness of essential tremor using common variants BioinformaticsBrain/nervous systemNeurogeneticsPolygenic risk score |
Zhou Lab of Population Genomics and Multi-Omicsszhoulab.github.io Analyzes proteomics, metabolites and large-scale genomics, and generates whole-genome sequencing data. Studies ancestry-specific disease determinants with Nunavik Inuit and COVID-19 cohorts.
| Moderator Wed Oct 21 11:00 am Poster Wed Oct 21 2:30 pm Genetic evidence from white blood cell traits links immune overactivation to risk of severe infection Genetic epidemiologyGenome-wide association studyImmune systemInfectious disease Poster Wed Oct 21 2:30 pm Multi-ancestry investigation of circulating metabolomics on cognitive decline Alzheimer’s diseaseGenomicsMetabolomicsMulti-omics Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Genetic Architecture and Disease Tracking of a Multi-Ancestry Biological Aging ClockBrain/nervous systemGenome-wide association studyLarge-scale biobanks in“For the people I connected with at ESHG, if you are coming to ASHG, loooking forward to welcoming you in Montreal!”Poster Fri Oct 23 2:30 pm Leveraging the ancestral recombination graph to perform association testing for intracranial aneurysm risk in the Nunavik Inuit population Complex diseasesHaplotypeSusceptibility locusPopulation genetics |
La Piana Lablapianalab.com/general-2 Investigates genetic white matter disorders using advanced imaging, next-generation sequencing analysis and deep clinical phenotyping. Defines imaging biomarkers for hereditary spastic paraparesis and ataxias.
| Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Expanding the Diagnostic Landscape of Tandem Repeat Expansions in Adult-onset LeukodystrophiesBrain/nervous systemEtiologyNeurodegenerationNeurogenetics Poster Wed Oct 21 2:30 pm Whole genome sequencing in unsolved adult genetic leukoencephalopathies increases diagnostic yield and reveals novel causes of Mendelian disease DiagnosticsExome/genome sequencingNeurodegenerationNeurogenetics Poster Wed Oct 21 2:30 pm Severity in Oculopharyngeal Muscular Dystrophy in French Canadians is associated with earlier onset and scapular winging Characterization of syndromesClinical geneticsNeurogenetics |
MyeliNeuroGene Labmyelineurogene.com Uses patient iPSCs, mouse models and HiFi-GS sequencing. Studies POLR3-related leukodystrophy and other rare white-matter disorders with patient participants worldwide.
| Poster Wed Oct 21 2:30 pm Estimating the Prevalence of POLR3-Related Disorders by Integrating Genotype-Phenotype Evidence Across Clinically Curated and Expanded Variant Sets Genetic epidemiologyGenotype-phenotype correlationsLarge-scale biobanksNeurogenetics Poster Thu Oct 22 4:15 pm Structure-resolved energetics distinguish recessive loss-of-function from dominant-negative mechanisms in POLR3B-related disease NeurogeneticsVariant interpretationNeurodegenerationMolecular pathophysiology Poster Fri Oct 23 2:30 pm Whole-genome sequencing resolves undiagnosed genetic neuromuscular and motor disorders in a national Southeast Asian cohort DiagnosticsExome/genome sequencingMuscular abnormalitiesNeurogenetics |
Braverman Laboratorybravermanlab.wixsite.com/bravermanlab Runs patient-cell screening, CRISPR/Cas9 editing, mouse models and LC-MSMS analyses. Studies peroxisomal disorders and therapies using natural-history and biobank data.
| Talk Wed Oct 21 2:23 pm From imbalance to equilibrium: antisense oligonucleotide therapy targeting allelic expression of PEX6 in Zellweger spectrum disorder Genotype-phenotype correlationsMolecular pathophysiologyMolecular therapeuticsRare variants Poster Thu Oct 22 4:15 pm A novel neonatal Pex16 deficient mouse model for studying brain pathophysiology and therapeutic strategies in Zellweger Spectrum Disorder Transgenic modelMetabolic disorderBrain/nervous systemAtaxia Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice From imbalance to equilibrium: antisense oligonucleotide therapy targeting allelic expression of PEX6 in Zellweger spectrum disorderMolecular therapeuticsMolecular pathophysiologyRegulation of transcriptionRare variants Moderator Sat Oct 24 8:15 am |
Advanced Genomic Technologies Laboratoryagtg.ca/team Develops 10X Genomics single-cell, Nanopore long-read and targeted sequencing workflows. Applies them to cancer, viral surveillance and screening with Cancer Research UK and McGill partners.
| Moderator Thu Oct 22 8:15 am Poster Thu Oct 22 4:15 pm Single cell and spatial transcriptomic profiling of esophageal adenocarcinoma reveals intratumor heterogeneity and defines distinct tumor-stroma-immune interactions Spatial transcriptomicsSingle-cellGastrointestinal systemMulti-omics Poster Fri Oct 23 2:30 pm Multi-omic detection of SVs and their associations with metabolic traits in the French-Canadian population Exome/genome sequencingLong-read sequencingGenotype-phenotype correlationsGenomic structure |
Bhérer Labclaudebherer.com Analyzes large-scale genomic datasets from population-based cohorts using Bash, R, Python and high-performance computing clusters. Studies evolutionary variation and disease to support new therapeutics.
| Poster Thu Oct 22 4:15 pm Developing interoperable sociodemographic data standards for evidence-based precision medicine: Insights from the Pan-Canadian Genome Library Precision medicineLarge-scale biobanksPublic healthGenetic epidemiology Poster Fri Oct 23 2:30 pm Optimizing genotype imputation strategies for heterogeneous multi-array biobanks BioinformaticsLarge-scale biobanksMethodologyMicroarrays |
D. Taliun Labgenomic-medicine-cerc.online Combines in-silico analysis of genetic epidemiology, rare-disease and pharma databases with functional genomics and clinical investigations. Builds genomic-medicine infrastructure with McGill Genome Centre and BIO-PORTAL.
| Poster Thu Oct 22 4:15 pm Sex-differential pleiotropic effects of HLA alleles on immune, thyroid, and lipid traits in a population-based Canadian cohort Autoimmune disorderComplex traitsGenome-wide association studyImmune system Poster Fri Oct 23 2:30 pm Pisces: a unified PCA-based framework for improved genetic ancestry estimation across heterogeneous genomic datasets Statistical geneticsComputational toolsPopulation geneticsPopulation structure |
Li Lab at McGill Computer Sciencecs.mcgill.ca/… Develops AI methods for single-cell multi-omics, scATAC-seq, RNA-seq and EHR data. Applies them to population genetics and healthcare.
| Poster Wed Oct 21 2:30 pm scConcept enables concept-level exploration of single-cell transcriptomic data Artificial intelligenceDeep learningSingle-cellTranscriptome Poster Wed Oct 21 2:30 pm Polygenic risk score heterogeneity is structured across individuals and the genome: MoEPRS and MoEsaicPRS improve prediction across biobank traits Polygenic risk scoreStatistical geneticsMachine learningPopulation structure |
McGill CERC in Genomic Medicinegenomic-medicine-cerc.online Combines in-silico analysis of genetic epidemiology, rare-disease and pharma databases with functional genomics and clinical investigations. Builds genomic-medicine infrastructure with McGill Genome Centre and BIO-PORTAL.
| Poster Thu Oct 22 4:15 pm Baseline Glycemia Drives Genetic Associations with Incident Type 2 Diabetes in the Canadian Longitudinal Study on Aging Large-scale biobanksComputational toolsQuantitative traitGenetic epidemiology Poster Fri Oct 23 2:30 pm Investigating allele count cutoffs for safe sharing of sequencing-based GWAS summary statistics Computational toolsEthical, legal, and social implicationsExome/genome sequencingGenome-wide association study |
Ricangen (Riazalhosseini Lab)ricangen.com Generates and analyzes cancer genomic, epigenomic and transcriptomic profiles using NGS, single-cell and spatial omics. Studies renal-cell carcinoma with the McGill/MUHC RCC biobank.
| Poster Wed Oct 21 2:30 pm Monitoring disease activity in dermatomyositis using blood microsampling Alternative splicingAutoimmune disorderLong-read sequencingRNA-seq Poster Fri Oct 23 2:30 pm Scalable tumor sequencing for accurate diagnosis of renal tumors with clear cell features CancerDiagnosticsGenetic testingTargeted sequencing |
Srour Lab: Genetics of Neurodevelopmental Disordersmcgill.ca/geneneurodisorderslab/team Studies neurodevelopmental disorders using whole-exome and novel sequencing technologies. Identifies genes behind brain malformations and epilepsy to improve care and develop targeted treatments.
| Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Characterization of focal cortical dysplasias using single nucleus RNA sequencingEpilepsyTranscriptomeSomatic variantsSingle-cell Talk Fri Oct 23 11:30 am De novo TUBA1B variants cause a syndromic neurodevelopmental disorder associated with brain, intestinal, renal, and immunological defects Intellectual and developmental disabilityRare variantsGastrointestinal systemBrain/nervous system |
Statistical Genomics and Intelligence Learning Laboratoryqihuangzhang.github.io/Research.html Develops statistical and machine-learning methods for spatial transcriptomics, single-cell RNA-seq and spatial metabolomics data. Uses them for disease characterization, biomarker discovery and precision medicine.
| Poster Thu Oct 22 4:15 pm DenMark: A Bayesian Hierarchical Model for Identifying Cell-Density Correlated Genes from Single-Cell-Resolution Spatial Transcriptomics Spatial transcriptomicsSingle-cellGenomicsStatistical genetics Poster Thu Oct 22 4:15 pm Winnow-KAN: Single-Cell RNA-seq Location Recovery with Small-Gene-Set Spatial Transcriptomics Artificial intelligenceRNA-seqSingle-cellSpatial transcriptomics |
Canadian Centre for Computational Genomicscomputationalgenomics.ca/about-us Provides customized bioinformatics analysis and software for scRNA-seq, Visium spatial transcriptomics, WGS/WES, PacBio Hi-Fi and epigenomic data. Supports PCGL, HostSeq, cancer and microbiome genomics projects.
| Poster Wed Oct 21 2:30 pm Leveraging long-reads for whole genome sequencing and single cell RNA to improve characterization of rare tumours BioinformaticsCancerPrecision medicineSingle-cell |
Canadian Centre for Computational Genomics (C3G)computationalgenomics.ca Provides bioinformatics analysis, software development and HPC services for WGS, RNA-seq, ChIP-Seq and HiC data. Supports the McGill Genome Centre and life-science researchers.
| Poster Thu Oct 22 4:15 pm Composition-aware tandem repeat genotyping: detecting intra-repeat variation and interruption GenomicsComputational toolsTriplet and other repeatsLong-read sequencing |
Cardiovascular Health Across the Lifespan (CHAL) Programrimuhc.ca/cardiovascular-health-across-the-lifespan-program Studies biomarkers, histopathology, genetics and translational genomics in cardiovascular research. Focuses on vascular, cardiac and complex heart health.
| Poster Fri Oct 23 2:30 pm Proteomic Modifiers of Lp(a)-Driven Coronary Artery Disease Risk: Observational and Mendelian Randomization Analyses in the UK Biobank Complex traitsLarge-scale biobanksMendelian randomizationProteomics |
Centre of Genomics and Policygenomicsandpolicy.org/en Studies legal and policy issues in genomic data sharing, RNA-based precision medicine and biobanking. Works with international partners on responsible innovation and health equity.
| Poster Thu Oct 22 4:15 pm Uneven Practice, Unclear Policy: Preimplantation Genetic Testing Across Canadian ART Clinics InfertilityGenetic counselingClinical testingPolicy issues |
Centre of Genomics and Policy (CGP)genomicsandpolicy.org Studies ethical, legal and policy issues around omics, RNA-based precision medicine, gene therapies and artificial intelligence. Works with local, national and international partners.
| Poster Fri Oct 23 2:30 pm Emerging ethical, legal, and social issues in RNA technologies and therapeutics: A scoping review Ethical, legal, and social implicationsRNAPublic healthPolicy issues |
CERC Program in Genomic Medicinegenomic-medicine-cerc.online Combines in-silico analysis of genetic epidemiology, rare-disease and pharma databases with functional genomics and clinical investigations. Builds genomic-medicine infrastructure with McGill Genome Centre and BIO-PORTAL.
| Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice A multi-omics tree-based framework for clustering stroke severity and identifying its potential genomic and proteomic driversBioinformaticsCardiovascular systemCharacterization of disordersMulti-omics |
Chang Labnclabca.wordpress.com Studies muscle stem cells using molecular and cell biology plus murine satellite-cell differentiation assays. Models Duchenne muscular dystrophy and rhabdomyosarcoma for regenerative medicine.
| Poster Thu Oct 22 4:15 pm Sexual dimorphism in muscle stem cells Gene regulationMuscular abnormalitiesRNA-seqSingle-cell |
Computational Biology Researchcs.mcgill.ca/… Develops AI methods for scATAC-seq, spatial transcriptomics, single-cell multi-omics and EHR data. Applies them to population genetics, clinical phenotyping and healthcare.
| Poster Wed Oct 21 2:30 pm LLM-Guided Clinical Topic Modeling Enables High-Resolution GWAS of Chronic Musculoskeletal Pain Statistical geneticsMachine learningGenome-wide association studyElectronic health records |
Foulkes Labwilliamfoulkeslab.com/our-team Performs whole exome sequencing and analyzes tumour sequencing data. Studies hereditary cancer predisposition involving DICER1, SMARCA4 and breast cancer families.
| Poster Thu Oct 22 4:15 pm Molecular and pathological characterization of intestinal hamartomatous polyps in DICER1-related tumor predisposition Cancer syndromesClinical geneticsExome/genome sequencingGastrointestinal system |
Genetics Unitshriners-genetics.mcgill.ca/pages%20folder/metabolicteam_e.html Runs Hologic Discovery dual-energy X-ray absorptiometry, Stratec XCT-2000 peripheral quantitative computed tomography and gene sequence analysis. Studies osteogenesis imperfecta and pediatric metabolic bone disorders.
| Poster Thu Oct 22 4:15 pm In vitro studies of ACTC1 variants causing arthrogryposis multiplex congenita Bone/joint abnormalitiesMendelian disorderMolecular pathophysiology |
Gravel Labgravellab.github.io/members Develops mathematical and statistical tools for genetic datasets, genomic cohorts and genealogical records. Studies population variation, human evolution, genetic risk and disease.
| Moderator Thu Oct 22 8:15 am Poster Thu Oct 22 4:15 pm Exploring selective scanning with Dz statistic: simulation and empirical studies Linkage disequilibriumMethodologyNatural selectionPopulation genetics |
Gupta Labgupta.lab.mcgill.ca/people Studies kidney and urinary-tract disease using mouse models, cell lines, single-cell RNA-sequencing, and UK Biobank data. Works with patients on genetic testing and trials.
| Poster Wed Oct 21 2:30 pm Novel associations of Claudin gene variants with kidney stone disease Gene familiesGenitourinary systemLarge-scale biobanksPhenome-wide association |
hEDS*Omics Research Programmcgill.ca/hypermobile-eds-omics-research Integrates molecular, clinical, lifestyle and environmental data with genomics, proteomics and artificial intelligence. Studies hEDS and HSD to identify subtypes, biomarkers and genotype-phenotype associations.
| Poster Wed Oct 21 2:30 pm Comorbidity Trajectories and Diagnostic Delay in 50,718 People with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder Clinical geneticsDatabasesElectronic health recordsEpidemiology |
Laboratoire Genopopgenopop.ca Développe des méthodes bioinformatiques sur données génomiques, séquençage et généalogies BALSAC. Étudie les maladies neuropsychiatriques et la génétique des populations québécoises.
| Poster Wed Oct 21 2:30 pm Detection and correction of pedigree errors in a deep population genealogy Large-scale biobanksPopulation structurePopulation geneticsMethodology |
Lebrun Lablebrunlaboratory.com Runs genome-wide CRISPR/Cas screens, organoid and xenograft models, and analyzes human patient datasets. Develops metastatic-cancer therapies and precision oncology strategies.
| Moderator Wed Oct 21 1:30 pm Poster Fri Oct 23 2:30 pm HSPE1 Defines a Dual Mitochondrial Vulnerability Driving Therapeutic Synergy in Pancreatic Cancer Genome editing/CRISPRMolecular therapeuticsGene regulationCancer |
Lefrançois Labladydavis.ca/… Uses exome, transcriptome, molecular biology and computational biology on patient-derived skin-cancer samples. Studies aggressive basal cell carcinoma, tumor microenvironment and actionable targets.
| Poster Thu Oct 22 4:15 pm Exploring the Molecular Landscape of Advanced Basal Cell Carcinoma RNA-seqExome/genome sequencingGenomicsBioinformatics |
McBride Labmcbridelab.org Studies mitochondrial dynamics, mitochondrial-derived vesicles and SUMOylation with biochemical, imaging, proteomic and lipidomic approaches. Applies findings to Parkinson’s disease, immunity and metabolism.
| Poster Fri Oct 23 2:30 pm Characterization of PEX16 and its role in Atypical Zellweger Spectrum Disorder Characterization of disordersRare variantsBrain/nervous systemProtein structure |
McGill CERC Program in Genomic Medicinegenomic-medicine-cerc.online Combines in-silico analysis of genetic epidemiology, rare-disease and pharma databases with functional genomics and clinical investigations. Builds genomic-medicine infrastructure with McGill Genome Centre and BIO-PORTAL.
| Poster Wed Oct 21 2:30 pm Using cerebrovascular age to map the trajectory of brain and vascular diseases Machine learningMulti-omicsNervous systemNeurogenetics |
Rosenblatt Laboratory (The Hess B. and Diane Finestone Laboratory in Memory of Jacob and Jenny Finestone)mcgill.ca/rosenblatt-lab Studies vitamin B12 metabolism using patient-derived fibroblasts, cancer cell lines and next-generation sequencing. Develops diagnostic assays and treatments for inherited cobalamin disorders.
| Poster Fri Oct 23 2:30 pm The effect of hydroxocobalamin dose-escalation in cultured fibroblasts from patients with the cblC inborn error of vitamin B12 (cobalamin) metabolism Cellular metabolismMendelian disorderMetabolic disorderPharmacologic therapy |
Slim Labmcgill.ca/rslimlab Uses exome and next-generation sequencing, PCR and Sanger sequencing to identify genes causing reproductive loss. Supports precision reproductive counselling and assisted reproduction.
| Poster Thu Oct 22 4:15 pm Long Read Sequencing Resolves Mechanistic Insights into 11p15.4 Associated Translocations in Mole Like Pregnancy Loss Reproductive geneticsChromosomal abnormalitiesExome/genome sequencingGenomic structure |
Investigator + Industry Trials Management Team (I2T)cru.mcgill.ca/i2t Manages neurological clinical trials through design, regulatory submissions, study start-up, monitoring and electronic data capture. Supports academic investigators and industry partners at The Neuro.
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Jerome-Majewska Labjerome-majewskalab.wixsite.com/jerome-majewska-lab Studies placental, craniofacial and liver morphogenesis using CRISPR/Cas9-generated mouse models. Investigates congenital malformations and human hereditary disease.
| Moderator Fri Oct 23 11:00 am |
Lasko Labmcgill.ca/lasko-lab Studies RNA-binding proteins and translational control in Drosophila melanogaster. Uses Drosophila to investigate germ-cell specification, embryonic patterning and oogenesis.
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Richards Labmcgill.ca/genepi/people-profiles Works in population genetics and computational genetics.
| Talk Wed Oct 21 2:11 pm Genetic architecture of pathway-specific metabolomic aging clocks in the Canadian Longitudinal Study on Aging MetabolomicsMachine learningGenetic epidemiologyGenome-wide association study Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice The landscape and phenotypic impact of mobile element variations in the UK BiobankCopy number/structural variationEvolutionary geneticsPhenome-wide association Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Genetic architecture of pathway-specific metabolomic aging clocks in the Canadian Longitudinal Study on AgingComplex traitsGenetic epidemiologyGenome-wide association studyMachine learning Poster Thu Oct 22 4:15 pm Sex differences in disease prevalence persist without strong evidence of genetically dimorphic effects Genetic epidemiologyHeritabilityComplex diseasesBioinformatics Poster Thu Oct 22 4:15 pm An Atlas of the Genetic Determinants of Toxin Levels in Humans Large-scale biobanksGenome-wide association studyGene environment interactionPublic health |
Lu Laboratoryqlu-lab.org Works in population genetics and clinical genetics.
| Poster Thu Oct 22 4:15 pm Impact of proxy cases on identification of target genes for Alzheimer's disease using Mendelian randomization Alzheimer’s diseaseBioinformaticsMendelian randomization |
Martin Lab Works in rare disease and computational genetics. | Poster Wed Oct 21 2:30 pm Exploring Therapeutic Opportunities for the Rare Mitochondrial Disorder Leigh Syndrome, French-Canadian Type Using CRISPR Technologies Genome editing/CRISPRGene therapyPrecision medicineTranslational studies and preclinical trials Poster Fri Oct 23 2:30 pm CRISPR-BEasy: making CRISPR base editing screens accessible from library design to 3D structural insights Genome editing/CRISPRBioinformaticsLaboratory genetics and genomics |
Grant Lab Works in population genetics. | Poster Fri Oct 23 2:30 pm Genetic insights into multisite chronic pain: defining the MCP-binary phenotype & advancing GWAS meta-analysis across biobanks Genome-wide association studyLarge-scale biobanksStatistical geneticsPhenotype |
Kitzler Lab Research group. | Poster Wed Oct 21 2:30 pm Rare heterozygous COL4A1 variants as a novel cause of congenital anomalies of the kidney and urinary tract (CAKUT) Genetic variationMolecular pathophysiologyGenitourinary systemModel organisms |
Medical Genetics Division, MUHC Works in rare disease. | Poster Thu Oct 22 4:15 pm Expanding the allelic and phenotypic spectrum of CYLD cutaneous syndrome: intragenic copy-number duplication and metastatic spiradenocarcinoma Characterization of disordersCharacterization of syndromesClinical geneticsCopy number/structural variation |
Urologic Oncology Research Group Works in cancer genetics and clinical genetics. | Poster Thu Oct 22 4:15 pm Primary Tumour and Longitudinal ctDNA Whole-Genome Sequencing Identifies Genomic Signatures of Active Disease in Patients with Severe Prostate Cancer CancerGenomicsBioinformaticsCell-free DNA |
| 10 more presenters — research group not yet identified | |
Baylor College of Medicine Houston, Texas | 15 PhD Students · 9 Faculty · 6 PIs · 5 Staff Scientists |
Human Genome Sequencing Centerhgsc.bcm.edu Generates and analyzes WGS, WES, RNA-Seq capture and targeted NGS panels. Supports rare disease, population genomics, cancer and functional genomics.
| Talk Wed Oct 21 1:51 pm Clinically integrated genomic screening yields reportable findings in >90% of individuals Electronic health recordsGenetic counselingGenetic testingPharmacogenomics Poster Wed Oct 21 2:30 pm Toward a unified large language model framework for literature-based ACMG/AMP evidence extraction Artificial intelligenceLaboratory genetics and genomicsVariant interpretationPrecision medicine Poster Wed Oct 21 2:30 pm Clinical implementation of urine global metabolomics for detection of inborn errors of metabolism Biochemical pathologyClinical testingGenetic testingMetabolic disorder Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Clinically integrated genomic screening yields reportable findings in >90% of individualsElectronic health recordsGenetic counselingGenetic testingPharmacogenomics Poster Wed Oct 21 2:30 pm Cross-tissue SBS18 enrichment in a monoallelic MUTYH p.Gly396Asp carrier from the Somatic Mosaicism across Human Tissues (SMaHT) cohort Somatic variantsMosaicismCancer syndromesRisk assessment Moderator Thu Oct 22 1:30 pm Poster Thu Oct 22 4:15 pm A Multi-Agent Framework for High-Throughput Multiomics at a Clinical Genome Center Artificial intelligenceBioinformaticsClinical testingLaboratory genetics and genomics Poster Thu Oct 22 4:15 pm Multi-Omics Profiling of a Cohort of Xia-Gibbs Syndrome Individuals MethylationMulti-omicsNeurodevelopmentalProteomics Poster Thu Oct 22 4:15 pm Multi-caller whole-genome CNV analysis of severe schizophrenia identifies pathogenic variants and recurrent gene disruptions in UBXN7 and TENM2 Copy number/structural variationPsychiatric geneticsLaboratory genetics and genomicsVariant calling Symposium Fri Oct 23 8:15 am Symposium Fri Oct 23 9:40 am Talk Fri Oct 23 2:00 pm Mission Aware Multi Omics Profiling of Early Human Adaptation to Spaceflight Multi-omicsProteomicsSingle-cellRNA-seq Poster Fri Oct 23 2:30 pm Breaking the diagnostic ceiling: genetic findings and AI-enabled discovery in the GREGoR Consortium Artificial intelligenceExome/genome sequencingIdentification of disease genesMendelian disorder |
Atkinson Labegatkinsonlab.com Analyzes GWAS, gnomAD, UK Biobank and All of Us Researcher Workbench data with statistical genomics methods. Studies admixed populations, psychiatric traits and human evolutionary history.
| Moderator Wed Oct 21 1:30 pm Moderator Wed Oct 21 1:30 pm Poster Wed Oct 21 2:30 pm MosaicSim: A Novel Simulator Revealing the Impact of Coverage, Allele Frequency, and Sequencing Platform on Mosaic Variant Detection Genetic variationVariant callingSomatic variantsBioinformatics Poster Thu Oct 22 4:15 pm Leveraging LD to Improve Lp(a) Genetic Prediction Across Populations Cardiovascular systemLinkage disequilibriumPolygenic risk scorePopulation genetics Poster Fri Oct 23 2:30 pm The landscape of deleterious genetic interactions in the human genome Rare variantsPopulation geneticsNatural selectionEvolutionary genetics Poster Fri Oct 23 2:30 pm Ancestry-specific genetic architecture across 3,500 phenotypes reveals pervasive marginal effect size heterogeneity Genome-wide association studyPhenome-wide associationPopulation structureStatistical genetics Poster Fri Oct 23 2:30 pm Improving gene discovery with rare variants in admixed American populations Complex traitsMethodologyPopulation geneticsRare variants Moderator Sat Oct 24 9:45 am |
Bioinformatics Research Laboratorygenboree.org/site/team Analyzes small and long RNA-seq, epigenomic and whole-exome sequencing data with Genboree Workbench tools. Covers ClinGen variant interpretation and ExRNA Atlas resources.
| Poster Thu Oct 22 4:15 pm Information-Theoretic Prioritization of Pathogenic Noncoding Variants Reveals Subtype-Specific Regulatory Mechanisms in Congenital Heart Disease Genetic variationBioinformaticsEpigeneticsStatistical genetics Poster Thu Oct 22 4:15 pm A Computable Framework for Sequence Variant Classification v4 Criteria Specifications within the ClinGen CSpec Registry Clinical geneticsComputational toolsDatabasesVariant interpretation Poster Thu Oct 22 4:15 pm A Scalable Framework for Defining Structural Variants in the ClinGen Allele Registry BioinformaticsComputational toolsCopy number/structural variationDatabases |
Liu Labliuzlab.org Develops AI models for genomics, scRNA-seq, bulk RNA-seq and NMR data. Applications include rare-disease diagnosis and autism-model validation with Texas Children’s Hospital and SPARK.
| Poster Thu Oct 22 4:15 pm Poster Thu Oct 22 4:15 pm Matched sibling analysis reveals oligogenic burden of rare damaging variants in autism spectrum disorder AutismBioinformaticsExome/genome sequencingRare variants Symposium Fri Oct 23 8:35 am |
Sedlazeck Labfritzsedlazeck.github.io Develops algorithms for structural-variant analysis of PacBio and Oxford Nanopore long reads, methylation and large-scale genomics. Applies them to disease, evolution and clinical genomics.
| Symposium Wed Oct 21 8:15 am Symposium Wed Oct 21 8:50 am Poster Fri Oct 23 2:30 pm A multi-tissue atlas of mosaic structural variation, tandem repeat instability, and DNA methylation across human tissues BioinformaticsEpigeneticsGenetic variationGenomics |
BCM-GREGoRgregorconsortium.org Generates exome/genome data on Illumina NovaSeq 6000 at Baylor HGSC and analyzes genomic data. Uses functional phenotyping to advance precision molecular diagnosis and gene-function research.
| Poster Thu Oct 22 4:15 pm TTC36 and autosomal recessive tyrosinemia: evidence from human genetics and functional validation Identification of disease genesMendelian disorderNewborn screeningMetabolic disorder Talk Fri Oct 23 2:00 pm Haploinsufficiency of RNPS1, a Component of the Exon Junction Complex, Causes a Syndromic Neurodevelopmental Disorder with Skeletal Anomalies Candidate geneCharacterization of syndromesIdentification of disease genesMalformation in“our abstract on a novel neurodevelopmental-skeletal spliceosomopathy was selected for a platform presentation at ASHG 2026. Hope to see you in Montreal!” |
Dhindsa Labdhindsalab.com/people Uses genome sequencing, single-cell RNA-sequencing, chromatin profiling, human iPSC-derived neurons and UK Biobank data. Studies genetic causes and mechanisms of neurological and other human diseases.
| Talk Thu Oct 22 8:15 am A large-scale Perturb-seq map of haploinsufficient neurodevelopmental disorder genes in iPSC-derived neurons reveal convergence and divergence in transcriptional programs Genome editing/CRISPRLaboratory genetics and genomicsNeurodevelopmentalChromatin Poster Thu Oct 22 4:15 pm Establishment of a scalable automated pediatric biobank at Texas Children’s Hospital to advance equitable genomic research Large-scale biobanksGenetic variationGenomicsPrecision medicine |
Wangler Labbcm.edu/research/faculty-labs/michael-wangler-lab/members We study rare childhood diseases using medical genetics, genomics, and Drosophila models. We use Drosophila models for diagnostic paradigms.
| Poster Fri Oct 23 2:30 pm The Model Organisms Screening Center’s (MOSC) contributions to solving Undiagnosed Disease Network (UDN) cases Brain/nervous systemCharacterization of disordersClinical geneticsIdentification of disease genes Poster Fri Oct 23 2:30 pm NLGN3 autism variants have distinct functional impact on synapses and sleep behavior in Drosophila AutismGenetic variationInheritance patternsModel organisms |
Zong Labbcm.edu/research/faculty-labs/chenghang-zong-lab/lab-members Develops LCS-WGA, MATQ-seq and MATQ-drop for single-cell genomic and transcriptomic profiling. Uses genetically engineered mice to study pancreatic tumorigenesis and early cancer events.
| Poster Wed Oct 21 2:30 pm SigFormer: an Attention-Based Framework for Robust Single-Sample Mutational Signature Decomposition BioinformaticsDeep learningGenetic variationSomatic variants Poster Fri Oct 23 2:30 pm Genome-wide High-Precision Duplex-seq Enables the Identification of Tissue-Specific Somatic Mutational Signatures in Normal Tissues Somatic variantsVariant callingDatabasesArtificial intelligence |
Center for Precision Medicine Modelsbcm.edu/research/research-centers/center-for-precision-medicine-models Produces and phenotypes Drosophila and mouse models, and analyzes exome, genome and human-model multi-omics data. Supports rare-disease diagnosis with clinicians and the Undiagnosed Diseases Network.
| Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Precision Medicine Models for Rare and Undiagnosed Mendelian DisordersGenome editing/CRISPRIdentification of disease genesMendelian disorderModel organisms |
Diagnostic Laboratoriesbcm.edu/departments/molecular-and-human-genetics/our-team/diagnostic-laboratory-faculty Runs clinical whole-exome, whole-genome and transcriptome sequencing, chromosomal microarray and beadchip assays. Supports rare-disease diagnosis through Baylor Genetics and the Undiagnosed Diseases Network.
| Poster Fri Oct 23 2:30 pm Shared Germline and Clinical Signatures Between Neurodevelopmental Disorders and Pediatric Malignancies CancerExome/genome sequencingGenetic variationMulti-omics |
Epidemiology and Population Sciences Programtexaschildrens.org/tcri/our-research/areas-research/epidemiology Studies childhood cancer using blood and saliva samples plus epidemiological, clinical and patient-reported data. Works through ACCESS, SALUD and REDIAL on prevention, outcomes and disparities.
| Poster Wed Oct 21 2:30 pm Genome-wide bone marrow DNA methylation at diagnosis and end of induction measurable residual disease in pediatric acute lymphoblastic leukemia CancerEpidemiologyEpigenome-wide association studiesMethylation |
Erwin Laberwinlab.org Studies repetitive DNA with long read sequencing data and computational workflows. Develops experimental and bioinformatic tools to characterize variants in human disease.
| Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Pervasive Tandem Repeat Heterogeneity in the Male GermlineSomatic variantsReproductive geneticsMosaicismLong-read sequencing |
Laboratory Genetics and Genomics Fellowsbcm.edu/departments/molecular-and-human-genetics/education/clinical-laboratory-fellowships/fellows-and-alumni Trains Laboratory Genetics and Genomics fellows at Baylor Genetics in diagnostic testing. Covers constitutional and somatic testing, whole-exome sequencing and SNP-array comparative genomic hybridization.
| Poster Wed Oct 21 2:30 pm A multimodal genomic odyssey reveals complex biallelic DNM1 alterations in developmental and epileptic encephalopathy Clinical geneticsEpilepsyLaboratory genetics and genomicsNeurodevelopmental |
Stankiewicz Labbcm.edu/research/faculty-labs/pawel-stankiewicz-lab Analyzes chromosomal microarray, exome-sequencing and transcriptome data on lung-development disorders and somatic mosaicism. Studies FOXF1, TBX4-FGF10 and genomic rearrangements.
| Poster Thu Oct 22 4:15 pm De novo balanced chromosomal translocations separating intact FOXF1 from its distant lung-specific enhancer in two families with lethal alveolar capillary dysplasia. Chromosomal abnormalitiesChromosomal structure/functionClinical geneticsCopy number/structural variation |
Undiagnosed Diseases Centerbcm.edu/research/research-centers/undiagnosed-diseases-center/center-members Evaluates rare undiagnosed cases using WES/WGS, genomics, Drosophila screening and multi-omics. Supports diagnosis through the UDN and Baylor Genetics.
| Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice When Short Reads Fall Short: Oxford Nanopore Long-Read Sequencing Reveals Diagnostic Structural Variants and Resolves Repeat Expansion Architecture in Unsolved Rare Disease FamiliesLong-read sequencingCopy number/structural variationTriplet and other repeatsIntellectual and developmental disability |
Lee Labbcm.edu/research/faculty-labs/brendan-lee-lab Studies dysplasias and inborn errors using mammalian tissues, stable isotopic measurements and multi-omic phenotyping. Develops cell and gene therapies with Texas Children’s clinics.
| Moderator Fri Oct 23 1:30 pm |
ClinGen Community Curation (C3)clinicalgenome.org/working-groups/clingen-community-curation-c3 Works in cancer genetics and clinical genetics. | Poster Wed Oct 21 2:30 pm Performance of preliminary SDHB specifications for ACMG/AMP sequence variant classification v3: A pilot assessment Cancer syndromesEndocrine systemGenetic testingLaboratory genetics and genomics |
Genome Assembly Group Works in rare disease. | Moderator Thu Oct 22 11:00 am Poster Thu Oct 22 4:15 pm ClinGen variant curation in X-linked inherited retinal disease genes CACNA1F, CHM, NDP, NYX, OFD1, OPN1LW, OPN1MW, RP2, RPGR and RS1 Clinical geneticsGenotype-phenotype correlationsSensory disordersVariant interpretation |
Posey Laboratory Works in rare disease. | Poster Wed Oct 21 2:30 pm Genomic Dissection of Septo-Optic Dysplasia Supports a Pathway-Defined Diagnostic Framework for Clinically Heterogeneous Rare Diseases Characterization of syndromesCharacterization of disordersClinical geneticsDiagnostics Moderator Fri Oct 23 1:30 pm |
| 8 more presenters — research group not yet identified | |
Broad Institute Cambridge, Massachusetts | 21 Staff Scientists · 11 Postdocs · 6 PIs · 1 PhD Student |
Data Sciences Platformbroadinstitute.org/data-sciences-platform/dsp-team Develops software and services for GATK, GVS, Terra, single-cell and multimodal sequencing data. Supports All of Us, AnVIL and HCA data platforms.
| Talk Thu Oct 22 11:00 am Scaling mitochondrial variant calling in 30x short-read whole-genome sequencing for 535,000 All of Us Research Program participants Computational toolsGenomicsMitochondriaSNP analysis/discovery Poster Thu Oct 22 4:15 pm Establishing quality standards to facilitate creation of atlas-sized Perturb-seq datasets Genome editing/CRISPRRNARNA-seqSingle-cell Poster Fri Oct 23 2:30 pm Scaling population genomics to a million: the Genomic Variant Store as a cloud-native variant data management engine Large-scale biobanksBioinformaticsExome/genome sequencingComputational tools |
Karczewski Labklab.is Analyzes exome, genome, UK Biobank and functional genomics datasets with Hail, gnomAD and Genebass. Uses these resources to interpret disease variants and human genome biology.
| Poster Wed Oct 21 2:30 pm Developing Fair and Interpretable AI Models for Precision Medicine in Pathogenic Variant Carriers with Proteomics Data DiagnosticsEthical, legal, and social implicationsMachine learningProteomics Talk Fri Oct 23 2:00 pm Integrating 730,947 exomes with agentic clinical literature curation improves gene discovery BioinformaticsDiagnosticsGenetic variationIdentification of disease genes Poster Fri Oct 23 2:30 pm Mechanistic interpretation of missense variants using sparse representations from protein language models Variant interpretationDeep learningArtificial intelligence |
Daly Labatgu.mgh.harvard.edu/organization/science-operations/page/3 Develops statistical methods and analyzes GWAS, exome-sequencing and genome-sequencing data for human-disease genetics. Focuses on autism, psychiatric, inflammatory bowel, autoimmune and diabetes genetics.
| Talk Wed Oct 21 1:43 pm Proteomic prediction of disease risk is specific to short-term disease incidence Complex diseasesHeritabilityProteomicsPolygenic risk score Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice From 1 to X: The rare variant genetic architecture of autismAutismComplex diseasesNeurodevelopmentalRare variants Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Proteomic prediction of disease risk is specific to short-term disease incidenceComplex diseasesHeritabilityPolygenic risk scoreProteomics |
Claussnitzer Labbroadinstitute.org/diabetes/diabetes-team Studies diabetes genetics using human genetic and clinical data, single-cell imaging and transcriptomics, and cellular/animal models. Translates variants into mechanisms, treatment response, and clinical practice.
| Symposium Wed Oct 21 8:15 am Poster Fri Oct 23 2:30 pm Improving Multi-Gene eQTL Power with Single-Cell RNA-seq via Hurdle-Based Co-Expression Modeling BioinformaticsComplex traitsComputational toolsExpression quantitative trait loci |
Huang Labhuanglab.ac Develops statistical genetics methods using GWAS, exome-sequencing and whole-genome sequencing data. Applies them to schizophrenia and inflammatory bowel disease with PGC and IIBDGC.
| Talk Wed Oct 21 11:00 am Exome sequencing directly implicates 68 genes in inflammatory bowel disease Gastrointestinal systemGenome-wide association studyIdentification of disease genesLinkage disequilibrium Poster Fri Oct 23 2:30 pm Brain-bone crosstalk in schizophrenia-associated osteoporosis: From brain-centered therapy to brain-bone co-treatment Bone/joint abnormalitiesBrain/nervous systemComplex diseasesDiagnostics |
Iqbal Labsites.google.com/iqballab.org/iqbal-lab/team/team-overview Develops bioinformatics tools for genomics, transcriptomics, proteomics, structural biology, DNA-encoded library and HTS data. Applies them to mutation mechanisms and drug discovery.
| Poster Wed Oct 21 2:30 pm BE3D: a structure-guided framework for base editing tiling screens to uncover functional and disease-associated residues BioinformaticsComputational toolsGenome editing/CRISPRVariant interpretation Poster Thu Oct 22 4:15 pm Human Proteome-wide Mechanistic Interpretation of Missense Variants through Protein Feature Enrichment Score BioinformaticsComputational toolsGenetic variationVariant interpretation |
Neale Labnealelab.is Develops statistical methods for GWAS, SNP arrays, WES, WGS and EHR data. Studies psychiatric disorders with UK Biobank and the Psychiatric Genomics Consortium.
| Poster Thu Oct 22 4:15 pm Scalable mapping of context-dependent eQTLs at single-cell resolution across immune cell states and disease-relevant perturbations Expression quantitative trait lociGene environment interactionRNA-seqSingle-cell Poster Fri Oct 23 2:30 pm Human-Cattle GWAS meta-analysis improves fine-mapping and gene-prioritization in dizygotic twinning Reproductive geneticsStatistical geneticsPopulation geneticsMethodology |
Talkowski Laboratorytalkowski.mgh.harvard.edu/about/people-2 Studies structural variation using whole-genome sequencing, long-read sequencing and iPSC-derived neural cell lines. Supports studies of autism, fetal anomalies and psychiatric disorders.
| Talk Thu Oct 22 1:30 pm gnomAD-LR: A population-scale, long read reference resource for variant discovery and haplotype-resolved episignatures DatabasesGenetic variationLarge-scale biobanksLong-read sequencing Talk Sat Oct 24 9:45 am Federated analyses yield almost 2 million structural variants from 147,994 genomes from the Genome Aggregation Database and the All of Us Research Program DatabasesComputational toolsCopy number/structural variationGenomics |
AnVIL Programanvilproject.org Runs genomic analysis on Terra, Bioconductor, Galaxy, Jupyter and 10x Genomics data. Hosts NHGRI consortia for shared, reproducible analysis.
| Talk Wed Oct 21 1:30 pm The All of Us + AnVIL imputation service: The world's largest, most ancestrally diverse genomic reference panel for equitable variant discovery BioinformaticsGenome-wide association studyLarge-scale biobanksPolygenic risk score Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice The All of Us + AnVIL imputation service: The world's largest, most ancestrally diverse genomic reference panel for equitable variant discovery.BioinformaticsGenome-wide association studyLarge-scale biobanksPolygenic risk score |
Data Sciences Platform (DSP)broadinstitute.org/data-sciences-platform/dsp-team Develops software and services for GATK, GVS, Terra, single-cell and multimodal sequencing data. Supports All of Us, AnVIL and HCA data platforms.
| Symposium Wed Oct 21 8:15 am Symposium Wed Oct 21 8:35 am |
Flannick Labflannicklab.org/people Develops computational models for whole-genome, exome, GWAS and Hi-C data. Applies statistical genetics to diabetes, rare disease and drug-target discovery.
| Talk Wed Oct 21 1:43 pm Annotation-informed soft clustering of genome-wide association study signals identifies biologically interpretable factors and novel genes underlying type 2 diabetes heterogeneity DiabetesPolygenic risk scoreStatistical geneticsGenome-wide association study Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Annotation-informed soft clustering of genome-wide association study signals identifies biologically interpretable factors and novel genes underlying type 2 diabetes heterogeneityDiabetesGenome-wide association studyPolygenic risk scoreStatistical genetics |
Martin Labarmartinlab.com Analyzes GWAS, low-coverage sequencing, biobank and 1000 Genomes data. Uses them for polygenic risk prediction, psychiatric genetics and population history.
| Talk Wed Oct 21 2:23 pm Genome-wide association studies of psychotic disorders in diverse African populations reveal shared and population-specific genetic risk Genome-wide association studyPolygenic risk score Moderator Thu Oct 22 8:15 am Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Genome-wide Association Studies of Psychotic Disorders in Diverse African Populations Reveal Shared and Population-Specific Genetic RiskGenome-wide association studyPolygenic risk score |
Broad Clinical Labsbroadclinicallabs.org Generates and analyzes data from Illumina NovaSeq X Plus, PacBio Revio, 10x single-cell and Olink Explore HT. Supports research, clinical testing and clinical-trial projects.
| Poster Fri Oct 23 2:30 pm Clinical Technical Validation of Pharmacogenomic STAR Allele and CYP2B6/CYP2D6 Targeted Callers for Whole Genome Sequencing PharmacogenomicsExome/genome sequencingGenetic testingBioinformatics |
Development Labmethodsdevlab.org Develops long-read RNA isoform sequencing, MAS-ISO-seq, Perturb-seq and single-cell RNA-seq methods. Uses them for cancer transcriptomics and billion-cell functional genomics.
| Talk Sat Oct 24 10:00 am Dissecting evolutionary and drug response dynamics in metastatic breast cancer via long-read single-cell transcript isoform, fusion, and mutation analysis Alternative splicingCancerLong-read sequencingSingle-cell |
Erion-Barner Groupbroadinstitute.org/spatial-technology-platform/research Develops high-throughput 3D imaging transcriptomics, light-sheet microscopy and multi-omic protein-labeling methods. Studies psychiatric disease mechanisms and pathology applications.
| Poster Fri Oct 23 2:30 pm Whole-transcriptome, large-area profiling of developing human ovaries and uterus with in situ spatial transcriptomics Spatial transcriptomicsDevelopmentReproductive genetics |
Fahed Labfahedlab.com/team Analyzes genomic biobank, coronary CT plaque, and electronic health record data with machine learning. Uses them for coronary disease discovery, risk prediction, and genomic-medicine studies.
| Poster Fri Oct 23 2:30 pm A Common CD36 Variant and the Genetic Landscape of Dilated Cardiomyopathy in Individuals of African Ancestry BioinformaticsCardiovascular systemClinical geneticsEvolutionary genetics |
Farhi Groupbroadinstitute.org/spatial-technology-platform/research Develops high-throughput 3D imaging transcriptomics, light-sheet microscopy and multi-omic protein-labeling methods. Studies psychiatric disease mechanisms and pathology applications.
| Poster Thu Oct 22 4:15 pm Assessment of high-scale quality control methods for spatial transcriptomic analysis Spatial transcriptomicsFISH |
Finucane Labfinucanelab.org/people-1 Develops statistical and computational methods integrating genetic, molecular and functional data. Analyzes UK Biobank, GTEx and complex-trait data for fine-mapping and gene prioritization.
| Poster Wed Oct 21 2:30 pm Systematic estimation of binding affinity effects for disease-associated missense variants at ligand-binding sites Rare variantsVariant interpretationComputational toolsProtein structure |
gnomAD methods Teamgnomad.broadinstitute.org Analyzes exome and genome sequencing data with Hail, principal-component analysis and random-forest methods. Supports rare-disease diagnosis and variant interpretation.
| Poster Wed Oct 21 2:30 pm Identifying pathogenic tandem repeat expansions at novel loci in short-read and long-read rare disease datasets Mendelian disorderMethodologyNeurodevelopmentalGenomics |
Hacohen Labhacohenlab.mgh.harvard.edu Develops genome-wide CRISPR, optical pooled screening and single-cell transcriptomic methods. Studies human tumor immunity, sepsis, autoimmunity and innate immune circuits.
| Poster Wed Oct 21 2:30 pm Optimising Ex Vivo Tumour Explants for Spatial Transcriptomic Profiling CancerSpatial transcriptomics |
Koyama Lab | Human Genetics and Personalized Medicinekoyama-lab.org Analyzes whole-genome sequencing, GWAS, RVAS and biobank health data. Develops polygenic risk scores for cardiometabolic disease and precision prevention.
| Poster Wed Oct 21 2:30 pm Rare and common variant analyses in diverse populations identify population-specific signals and candidate drug target genes BioinformaticsCandidate geneExome/genome sequencingLarge-scale biobanks |
Mercader Labmercaderlab.mgh.harvard.edu/our-team Analyzes whole-genome, whole-exome, RNA-seq, multi-omics and biobank data. Develops ancestry-aware variant interpretation, polygenic risk scores and precision medicine for type 2 diabetes.
| Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Boosting ancestry representation in large-scale meta-analyses improves rare variant interpretation in monogenic diabetes genes.Complex diseasesGenome-wide association studyLarge-scale biobanksRare variants |
O'Donnell-Luria Labodonnell-luria-lab.com/our-team Analyzes short-read genomes, long-read genomes, RNA-seq, proteomics and gnomAD data. Improves rare-disease diagnosis, variant interpretation and gene discovery.
| Poster Wed Oct 21 2:30 pm Alternative transcripts harbor pathogenic variants in rare disease patients Clinical geneticsDiagnosticsExome/genome sequencingMendelian disorder |
Project Ex Vivoexvivo.broadinstitute.org Generates single-cell and spatial transcriptomics datasets and builds AI models for tumor-microenvironment states. Builds ex vivo cancer models for precision-oncology therapy selection.
| Poster Wed Oct 21 2:30 pm Defining Transcriptional Phenotypes and Spatial Organization in Cholangiocarcinoma CancerTranscriptomeSpatial transcriptomicsSingle-cell |
Robinson Labrobinsonlab.org Studies human behavioral and cognitive variation using GWAS and exome data. Develops quantitative approaches to characterize polygenic risk in neuropsychiatric disease.
| Symposium Wed Oct 21 9:07 am |
Translational Analysis Group (TAG)github.com/broadinstitute/TAG-public Develops and validates computational workflows for genomic sequencing, WGS, CMA, and Illumina DRAGEN. Applies them to reliable clinical reporting and patient care.
| Poster Wed Oct 21 2:30 pm VARium: a large-scale synthetic genome collection for multi-platform SV benchmarking Copy number/structural variationDatabasesLong-read sequencing |
Tumor Immunotherapy Discovery Engine (TIDE)mangusolab.org/tide Runs in vivo CRISPR screens in mouse models across genes and immunotherapies. Uses functional genomics and single-cell profiling to discover cancer-immunotherapy resistance mechanisms and targets.
| Poster Wed Oct 21 2:30 pm Direct comparison of CRISPR knockout and interference with Perturb-seq Genome editing/CRISPRSingle-cellRNA-seqMulti-omics |
Udler Teamudlerlab.org Analyzes genetic variation and patient genomic data from UK Biobank, Mass General Brigham Biobank and All of Us. Studies diabetes subtypes through RADIANT.
| Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Clustering of polygenic risk profiles identifies genetically distinct T2D subtypes with divergent cardiometabolic riskClinical geneticsDiabetesPrecision medicine |
Zhou Labwzhoulab.com Develops statistical methods for large-scale biobank, EHR-linked genomic and single-cell RNA-seq data. Studies genetic risk, disease progression and molecular mechanisms.
| Talk Thu Oct 22 9:15 am Maximizing genetic association power across the ancestry continuum in large-scale biobanks and cohorts BioinformaticsComputational toolsGenome-wide association studyMathematical modeling |
Broad-based ClinGen biocuration Teamthe-tgg.squarespace.com/team Curates gene, variant and disease-ontology data for ClinGen and Matchmaker Exchange. Supports clinical genomics through expert panels and curation standards.
| Moderator Fri Oct 23 4:30 pm |
Symposium Wed Oct 21 9:10 am | |
Stanley Center for Psychiatric Research Works in population genetics and computational genetics. | Talk Thu Oct 22 11:00 am Developmental splicing dynamics across human and non-human primate tissues in dGTEx and NHP-dGTEx Alternative splicingDevelopmentRNA-seq Poster Thu Oct 22 4:15 pm Transcriptomic impact of polygenicity: a pipeline to interrogate aggregate trait- and tissue-specific expression effects Complex traitsPolygenic risk scorePsychiatric geneticsTranscriptome |
Ardlie Lab Works in reproductive and prenatal genetics. | Poster Wed Oct 21 2:30 pm Spatial transcriptomic mapping of human testicular development across postnatal maturation DevelopmentDifferentiationGene regulationSequencing technology |
Broad Institute CVSi Works in population genetics. | Poster Wed Oct 21 2:30 pm GPC-M: a causal mediation framework for per-SNP cross-phenotype analysis under horizontal pleiotropy Complex traitsGenome-wide association studyGenotype-phenotype correlationsSNP analysis/discovery |
Karczewski and Neale groups Research group. | Poster Wed Oct 21 2:30 pm Missense predictors exhibit different performance depending on selection regime, gene, and trait Computational toolsIdentification of disease genesSNP analysis/discoveryPsychiatric genetics |
Long Reads Group Works in population genetics and clinical genetics. | Talk Thu Oct 22 8:45 am Haplotype-resolved genomics at biobank scale in ~12,500 participants from the All of Us Research Program Copy number/structural variationGenome-wide association studyLarge-scale biobanksLong-read sequencing |
| 3 more presenters — research group not yet identified | |
University of Pennsylvania Philadelphia, Pennsylvania | 20 PhD Students · 9 PIs · 6 Postdocs · 4 Staff Scientists |
Pasaniuc Labmed.upenn.edu/bogdan-group Analyzes biobank, electronic health record, RNA-seq and single-cell RNA-seq data with integrative genomics methods. Uses polygenic scoring and transcriptome-wide association studies for precision health.
| Poster Wed Oct 21 2:30 pm Multi-biobank characterization of strong APOL1 biallelic and monoallelic effects on end stage kidney disease Genetic epidemiologyGenotype-phenotype correlationsLarge-scale biobanksPhenome-wide association Poster Wed Oct 21 2:30 pm Contextual drivers of PGS portability for breast cancer (BC) and coronary heart disease (CHD) across seven large-scale biobanks and cohorts Complex diseasesDifferentiationLarge-scale biobanksPolygenic risk score Poster Wed Oct 21 2:30 pm Integration of polygenic risk with single cell methylation data using met-scDRS MethylationMethodologySingle-cellPsychiatric genetics Poster Fri Oct 23 2:30 pm Phenome-wide genetic analysis of pediatric disorders in the Arcus biobank Genome-wide association studyPhenome-wide associationLarge-scale biobanksElectronic health records |
Wang Labwglab.org Develops AI and bioinformatics methods for EHR, whole-genome/exome, PacBio, Oxford Nanopore and single-cell long-read RNA-seq data. Targets rare-disease diagnosis, genome reinterpretation and precision genomic medicine.
| Poster Wed Oct 21 2:30 pm NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS): 2026 Update Alzheimer’s diseaseDatabasesGenome-wide association studyGenomics Poster Thu Oct 22 4:15 pm A machine learning model to classify a gene’s mode of inheritance using phenotype and age of onset information BioinformaticsDiagnosticsGenotype-phenotype correlationsInheritance patterns Poster Thu Oct 22 4:15 pm NIAGADS Open Access: Natural-Language Access to AD Genomic Evidence Alzheimer’s diseaseArtificial intelligenceGenetic variationDatabases Poster Thu Oct 22 4:15 pm LongAllele: a joint inference framework for allele-specific analysis on long-read bulk and single-cell RNA sequencing Long-read sequencingHaplotypeAlternative splicingStatistical genetics |
Setia-Verma Labsetia-vermalab.org Uses machine learning on EHR data, genetic markers, environmental factors and clinical indicators. Builds prediction models for women’s health, including endometriosis and glaucoma.
| Poster Wed Oct 21 2:30 pm Multimodal models integrating rare variants and unstructured EHR features identify endometriosis with AUROC ~0.80 in a chart-reviewed biobank cohort GenomicsPolygenic risk scoreWomen's healthRisk assessment Poster Thu Oct 22 4:15 pm Integrating Clinically Actionable Endophenotypes into Polygenic Risk Scores Enhances Prediction and Early detection of Primary Open-Angle Glaucoma in African Ancestry Individuals BioinformaticsComputational toolsGenome-wide association studyLarge-scale biobanks Poster Thu Oct 22 4:15 pm Is “PMS-ing” Genetic? Assessing Genetic Risk of Premenstrual Conditions in Women who Ovulate Reproductive geneticsWomen's healthGenomicsLarge-scale biobanks |
Guo Labguo-laboratory.com/lab-members Studies Alzheimer’s genetics using genetic fine-mapping, single-cell DNA sequencing, bulk long-read DNA sequencing and genome engineering in cellular models. Develops computational diagnostics for neurogenetic conditions.
| Poster Thu Oct 22 4:15 pm Conditional Single-Cell eQTLs Reveal Hidden Regulatory Mechanisms Underlying Brain Disease GWAS Signals Alzheimer’s diseaseExpression quantitative trait lociSingle-cellGenome-wide association study Poster Fri Oct 23 2:30 pm Cell type–specific loss of the Y chromosome in the aging brain Alzheimer’s diseaseChromosomal abnormalitiesMosaicism |
Laboratory for Statistical and Translational Genomicstransgen.med.upenn.edu/… Uses statistical and computational methods on scRNA-seq, CITE-seq and spatial transcriptomics data. Studies cellular heterogeneity, cell state transition and disease susceptibility genes for clinical translation.
| Poster Wed Oct 21 2:30 pm Reconstructing multi-scale tissue spatial architecture from single-cell RNA-seq with REMAP Spatial transcriptomicsSingle-cellRNA-seqGenomics Poster Fri Oct 23 2:30 pm Cross-Modality Alignment of Spatial Transcriptomics, Multiplexed Imaging, and Histology with PHARAOH Multi-omicsComputational toolsSpatial transcriptomicsMethodology |
Verma Labgithub.com/Verma-Lab Analyzes biobank/EHR, CT/MRI, echocardiography, cardiac MRI, ECG, GWAS and exome-wide data. Uses Penn Medicine BioBank and other biobanks for genetic-risk prediction and clinical AI.
| Poster Thu Oct 22 4:15 pm Leveraging AI-Derived CT Phenotypes to Identify Sex-Specific Genetic Loci for Hepatic Fat in the Penn Medicine BioBank Genome-wide association studyLarge-scale biobanksArtificial intelligenceExpression quantitative trait loci Poster Thu Oct 22 4:15 pm Global Pleiotropy Networks Enhance Phenome-wide Polygenic Risk Prediction with Greater Gains in African Ancestry Individuals Genotype-phenotype correlationsGenomicsPhenome-wide associationPolygenic risk score |
Penn Telegenetics Programchti.upenn.edu/penn-telegenetics-program Provides genetic testing and counseling by telephone or video conferencing. Serves patients nationwide, community settings without genetic services, and large clinical trials.
| Talk Wed Oct 21 1:30 pm Final results of a randomized non-inferiority trial evaluating digital return of actionable genetic research results as compared to return by a genetic counselor (RESPECT3) Ethical, legal, and social implicationsGenetic counselingGenetic testingLarge-scale biobanks Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Final results of a randomized non-inferiority trial evaluating digital return of actionable genetic research results as compared to return by a genetic counselor (RESPECT3)Ethical, legal, and social implicationsGenetic counselingGenetic testingLarge-scale biobanks |
Shen Labmed.upenn.edu/shenlab Develops informatics, computing and data science methods for genetics, omics, imaging, biomarker, outcome and EHR data. Applies advanced AI to biobank and health datasets.
| Talk Wed Oct 21 1:55 pm Sex-stratified analysis uncovers sex-dimorphic genetic modifiers of cardiac structure and function Cardiovascular systemGenome-wide association studyLarge-scale biobanksComplex traits Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Sex-stratified analysis uncovers sex-dimorphic genetic modifiers of cardiac structure and functionCardiovascular systemComplex traitsGenetic epidemiologyGenome-wide association study |
Tishkoff Labmed.upenn.edu/tishkoff Studies African populations with genomic, proteomic, epigenetic, transcriptomic, metabolomic, microbiome and single-cell RNA and ATAC data. Research targets adaptation, disease risk and immune variation.
| Talk Wed Oct 21 11:30 am Heterogeneous selection signatures across West & Central African populations are associated with cardiometabolic, immune, and renal disease burden in African-ancestry populations Identification of disease genesLarge-scale biobanksNatural selectionPhenome-wide association |
Basser Center for BRCAbasser.org Studies BRCA1/2 gene mutations in basic, clinical and translational cancer research. Focuses on cancer interception, early detection and care for mutation carriers.
| Poster Thu Oct 22 4:15 pm Characteristics of germline genetic testing and cancer diagnoses among a single-institution cohort of male BRCA1/2 carriers BehaviorCancerCharacterization of syndromesClinical testing |
Center for Applied Genomicsresearch.chop.edu/center-for-applied-genomics Runs 10X Chromium, Illumina and PacBio sequencing, genotyping, and biorepository services. Studies pediatric rare and complex disorders to develop diagnostics and therapies.
| Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Integrative Multi-Omics and Deep Learning Analysis Identifies NETO1 as a Cross-Ancestry Risk Gene in Neurodevelopmental DisordersDeep learningGenome-wide association studyNeurodevelopmentalPharmacogenomics |
Chesi Labchesilab.notion.site/Welcome-to-the-Chesi-Lab-at-UPenn-70dc9b8416e947f9922bcdffe61eec4a Uses Capture C, Hi-C, ATAC-seq, ChIP-seq and RNA-seq with CRISPR/Cas9 in iPSC-derived neurons and cerebral organoids. Maps variants to genes in neurodegenerative disorders.
| Poster Wed Oct 21 2:30 pm Integrated chromatin, transcriptomic, and 3D genome profiling of ReNcell VM differentiation prioritizes effector genes for dopaminergic neuropsychiatric and behavioral traits Complex traitsGene regulationGenome-wide association studyGenomics |
Drivas Labdrivaslab.org Analyzes EHR-linked genotyping arrays and exome sequencing from medical biobanks, then validates findings in cell models. Focuses on primary-cilium disorders and human disease mechanisms.
| Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Finding signal in the noise: machine learning-driven disease gene discovery using latent phenotypic fingerprints across the biobank phenome – application to the primary ciliumLarge-scale biobanksCiliopathiesMachine learningBioinformatics |
Genomics and Computational Biologymed.upenn.edu/gcb/student-directory Trains students in computational and experimental genomics using long-read RNA sequencing, spatial transcriptomics and electronic health records. Studies human disease, evolution and biomedical research.
| Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice A genome-first approach to rare protein-altering variants in Lynch syndrome genes in the Penn Medicine BiobankStatistical geneticsRare variantsPhenome-wide associationGenetic counseling |
Graduate Group in Epidemiology and Biostatisticsmed.upenn.edu/ggeb Develops statistical methods for biomedical data, including imaging and genetic studies. Trains investigators in clinical trials, cohort studies and statistical computing.
| Poster Thu Oct 22 4:15 pm Integrative variant-to-gene annotation in multi-ancestry Alzheimer's disease pathway-specific polygenic risk scores Polygenic risk scoreGene regulationAlzheimer’s diseasePopulation structure |
Huang Labmed.upenn.edu/achuanglab Studies cancer immunotherapy using flow cytometry, transcriptional approaches and spatial transcriptomics. Examines checkpoint blockade responses in melanoma, Merkel cell carcinoma and renal cell carcinoma.
| Poster Fri Oct 23 2:30 pm Spatial Transcriptomics and Immunophenotyping of Mismatch Repair-Deficient Colonic Crypts Reveals T Cell-Mediated Immunosurveillance and Preneoplastic Transcriptional Alterations in Lynch Syndrome Cancer syndromesTranslational studies and preclinical trialsGastrointestinal systemSpatial transcriptomics |
Informatics Divisiondbei.med.upenn.edu/divisions/informatics Develops AI, machine-learning, NLP and data-integration methods for EHRs, imaging, omics and wearable-sensor data. Applies them to precision medicine, population health and clinical care.
| Poster Thu Oct 22 4:15 pm Graph Modeling of Pediatric Pharmacogenomic and EHR Data Reveals Structured Multi-Gene Co-Actionability Patterns BioinformaticsClinical geneticsElectronic health recordsMachine learning |
Institute for Biomedical Informatics (IBI)events.med.upenn.edu/ibi Develops AI, machine-learning and NLP infrastructure for EHR, TriNetX, Epic Cosmos and Epic Clarity data. Serves Penn Medicine clinical, translational and basic research.
| Talk Thu Oct 22 1:45 pm A multimodal agentic knowledge graph system for screening undiagnosed transthyretin amyloid cardiomyopathy Artificial intelligenceBioinformaticsCardiovascular systemDiagnostics |
Integrative Omics & Biomedical Informatics Laboratorybiomedinfolab.com Integrates multi-omics, imaging and EHR phenotype data with machine learning and deep learning. Uses these methods for precision medicine and translational informatics.
| Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Biobank-scale genomic analysis of quantitative CT image-derived phenotypes links complex disease risk variants to organ traitsGenome-wide association studyGenotype-phenotype correlationsMachine learningQuantitative trait |
Katsevich Labkatsevich-lab.github.io Develops statistical methodologies for single-cell CRISPR screens and single-cell multi-omics data. Uses them to study enhancer–gene regulation and human disease.
| Poster Fri Oct 23 2:30 pm PerturbPlan: An analytical framework for designing Perturb-seq experiments Genome editing/CRISPRRNA-seqMethodologyGene regulation |
Levin Lablevin-lab.org/index.html Uses human genetics and bioinformatics to identify therapeutic targets and predict cardiovascular risk. Builds polygenic risk scores in deeply phenotyped biobank and clinical cohorts.
| Poster Wed Oct 21 2:30 pm Genome-wide variance QTL mapping of spirometry traits links pulmonary function heterogeneity to COPD Quantitative traitGenome-wide association studyGene environment interactionRespiratory system |
Maxwell Labmed.upenn.edu/kmaxwelllab Studies BRCA1/2 and TP53 cancers using EM-seq, single-cell RNA sequencing, organoids and biobank data. Targets early detection and prostate-cancer genetics in Penn and VA cohorts.
| Poster Wed Oct 21 2:30 pm Comparison of point-of-care genetic testing to standard practices in urology clinics CancerClinical geneticsGenetic testing |
Penn Medicine BioBankpmbb.med.upenn.edu Combines Penn patient samples with clinical, genetic and survey data, including whole-exome sequencing and genotyping-chip data. Supports precision medicine and disease research with Penn investigators.
| Symposium Fri Oct 23 8:15 am |
Penn Neurodegeneration Genomics Centermed.upenn.edu/pngc Analyzes high-throughput genotyping, sequencing and tens of thousands of genomes. Supports ADSP, NIAGADS and Alzheimer’s disease gene discovery.
| Poster Wed Oct 21 2:30 pm Multi-Allelic Association Reveals 6 Novel Loci in 36,361 Whole Genomes: the Alzheimer’s Disease Sequencing Project (ADSP) Alzheimer’s diseaseGenome-wide association studyMassively parallel sequencingNeurodegeneration |
Romano Labromanolab.org Builds graph machine-learning models from electronic health records, biobanks, multi-omics datasets and Penn Medicine BioBank data. Studies disease mechanisms, women’s health and toxicology.
| Poster Thu Oct 22 4:15 pm Beyond pathogenic and benign: A comprehensive analysis of ClinVar classification dynamics reveals systematic trends Variant interpretationPrecision medicineClinical geneticsPopulation genetics |
Vujković Labvujkoviclab.com Analyzes GWAS and electronic health-record data with computational biology and clinical epidemiology. Studies cardiometabolic and liver disease for precision risk assessment and drug repurposing.
| Poster Thu Oct 22 4:15 pm Blood DNA Methylation Signatures Predict Incident All-Cause Liver Cirrhosis in the Million Veteran Program BioinformaticsEpigeneticsMulti-omics |
Xing Laboratoryxinglab.org/people Develops computational and experimental methods for RNA processing using long-read RNA-seq, short-read RNA-seq and nanopore sequencing. Applies them to human genetics, diagnostics and cancer immunotherapy.
| Talk Fri Oct 23 11:15 am Integrating long-read RNA sequencing with genomics and phenomics in a birth defects cohort to discover disease-relevant splice-altering variants Alternative splicingComplex diseasesLong-read sequencingMendelian disorder |
Akizu Labmed.upenn.edu/akizulab Integrates human genetics with human pluripotent stem cells and animal models. Studies developmental brain disorders, neurodegeneration and treatments.
| Moderator Fri Oct 23 11:00 am |
Musunuru Laboratorymed.upenn.edu/cvi/musunuru-laboratory.html Uses CRISPR base editing, adult stem cells and mouse and monkey models. Develops gene editing therapies for cardiovascular and metabolic diseases.
| Session Fri Oct 23 1:30 pm |
Tuteja Labmed.upenn.edu/tuteja-lab Studies pharmacogenomics with EHR-linked DNA, Penn Medicine Biobank and Million Veteran Program data. Integrates pharmacogenetic testing into care and studies multiomic predictors of drug response.
| Moderator Fri Oct 23 8:15 am |
Biomedical and Translational Informatics Laboratoryritchielab.org Works in population genetics.
| Poster Wed Oct 21 2:30 pm Structural brain variation reflects coordinated genetic effects across glial biology, peripheral organ systems, and multi-system disease risk Brain/nervous systemComplex diseasesGenetic mappingGenetic variation |
Poster Thu Oct 22 4:15 pm Association between polygenic scores for psychiatric disorders and pain-related clinical phenotypes Psychiatric geneticsPolygenic risk scoreAnxietyDepression | |
Grant and Voight labs Works in population genetics. | Talk Thu Oct 22 9:00 am Betanfer: Estimation of linkage disequilibrium from GWAS summary statistics enables large-scale cross-biobank fine mapping Genome-wide association studyGenetic mappingStatistical genetics |
| 1 more presenter — research group not yet identified | |
Hospital for Sick Children Toronto, Ontario | 15 Staff Scientists · 9 PhD Students · 4 PIs · 2 Postdocs |
Centre for Applied Genomicstcag.ca Runs Illumina NovaSeq 6000, MiSeq, PacBio Sequel IIe and Oxford Nanopore PromethION; analyzes NGS, microarray and methylation data. Serves academic, commercial and pharmaceutical researchers.
| Talk Wed Oct 21 2:19 pm Rare variants in small nuclear RNA genes reveal a splicing related genetic mechanism in individuals ascertained for autism spectrum disorder AutismGenotype-phenotype correlationsNon-coding RNARegulation of transcription Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Rare variants in small nuclear RNA genes reveal a splicing related genetic mechanism in individuals ascertained for autism spectrum disorderAutismGenotype-phenotype correlationsNon-coding RNARegulation of transcription Poster Thu Oct 22 4:15 pm Assessing differential methylation in long-read de novo assemblies and variation graphs Computational toolsLong-read sequencingMethylationBioinformatics Poster Thu Oct 22 4:15 pm The revised diploid genome sequence of an individual human: an optimized workflow for scaling of near telomere-to-telomere assemblies Exome/genome sequencingGenetic mappingGenetic variationGenomic structure Poster Fri Oct 23 2:30 pm Incorporating amino acid molecular features into language model training to enhance missense variant effect prediction in intrinsically disordered regions of proteins Artificial intelligenceAutismGenomicsMachine learning Poster Fri Oct 23 2:30 pm Whole-genome sequence analysis of 348 families expands the genomic contribution of common and rare variants to cerebral palsy GenomicsGenome-wide association studyGenetic variationExome/genome sequencing Poster Fri Oct 23 2:30 pm Multidimensional Spatiotemporal and Dosage Contexts of Shared Biological Pathways in Six Psychiatric Disorders. AutismPsychiatric geneticsCopy number/structural variationNeurodevelopmental |
Costain Lablab.research.sickkids.ca/costain Uses genome sequencing to diagnose children with undiagnosed genetic disease. Interprets rare variation for epilepsy, medical complexity and precision therapy development.
| Poster Wed Oct 21 2:30 pm Population-scale prioritization of common heterozygous SNPs for allele-specific antisense oligonucleotide therapy design Molecular therapeuticsPrecision medicinePopulation geneticsSNP analysis/discovery Poster Wed Oct 21 2:30 pm Implementing institution-wide programs for the proactive identification and accelerated testing of genetic variants amenable to antisense oligonucleotide treatments Clinical geneticsGene therapyMolecular therapeuticsPrecision medicine Talk Thu Oct 22 2:00 pm Gene-STEPS: Rapid genome sequencing improves diagnostic yield and management for infants with epilepsy Clinical testingEpilepsyExome/genome sequencingLong-read sequencing Poster Thu Oct 22 4:15 pm Systematic identification of rare splice-disrupting deep intronic variants for targeted antisense oligonucleotide design Splicing mechanismsVariant interpretationRare variantsRNA-seq Talk Fri Oct 23 11:45 am Genome-wide tandem repeat expansions in regulatory regions contribute to epilepsy risk EpilepsyTriplet and other repeats Talk Fri Oct 23 2:15 pm A scalable platform for exon-skipping antisense oligonucleotide therapy development for inborn genetic diseases Precision medicineComputational toolsDatabasesGene therapy Session Sat Oct 24 8:15 am |
Weksberg Labsickkids.ca/en/staff/w/rosanna-weksberg Develops genome-wide DNA methylation classifiers and bioinformatic pipelines, including artificial intelligence, for rare neurodevelopmental disorders. Uses EpigenCentral to classify uncertain variants.
| Poster Thu Oct 22 4:15 pm Episignatures for ASXL1, ASXL2, and RING1 Variants Enable Accurate Classification of Clinically Overlapping Neurodevelopmental Disorders EpigeneticsIntellectual and developmental disabilityNeurodevelopmentalMethylation Poster Thu Oct 22 4:15 pm Accelerated prenatal episignature development via transformation of blood-derived episignatures into cell-type agnostic classifiers Machine learningMethylationPrenatal diagnosisRare variants Symposium Fri Oct 23 8:35 am Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Combined Genetic and Epigenetic Sequencing Enables Precision Diagnosis of Kabuki Syndrome Type 1EpigeneticsGenetic testingIntellectual and developmental disabilityLong-read sequencing |
Yuen Lablab.research.sickkids.ca/yuen Analyzes short- and long-read WGS and develops computational algorithms for genome-wide tandem-repeat screens. Focuses on neurodevelopmental and neurological disorders.
| Moderator Wed Oct 21 11:00 am Poster Thu Oct 22 4:15 pm Functional analysis of DIP2B in zebrafish reveals conserved roles in cardiac function linked to repeat-associated cardiomyopathy Molecular pathophysiologyCardiovascular systemTransgenic modelCandidate gene Poster Fri Oct 23 2:30 pm Tandem Repeat Expansions in Tetralogy of Fallot: A Multi-Cohort, Multi-Omics Study Long-read sequencingTriplet and other repeatsRNA-seqMethylation Poster Fri Oct 23 2:30 pm Sex-biased de novo variant burden and structural genomic landscape in ADHD and OCD NeurodevelopmentalTriplet and other repeatsPsychiatric geneticsExome/genome sequencing |
Genetics & Genome Biologysickkids.ca/en/research/research-programs/genetics-genome-biology Analyzes whole-genome sequence data and DNA methylation assays with AI pipelines. Uses genetics and genomics for paediatric disease diagnosis, risk prediction and treatment.
| Moderator Thu Oct 22 8:15 am Poster Thu Oct 22 4:15 pm Genetic data sharing by clinical laboratories in Canada: A position statement by the Canadian College of Medical Geneticists (CCMG) DatabasesLaboratory genetics and genomicsGenetic variationVariant interpretation Poster Thu Oct 22 4:15 pm The burden of secondary findings from genome sequencing across genetic ancestry groups in Canada and the United States Exome/genome sequencingPopulation geneticsPrecision medicineVariant interpretation |
Hayeems Lablab.research.sickkids.ca/hayeems Evaluates genome-wide sequencing, exome sequencing and genetic testing with C-GUIDE and P-GUIDE. Studies maternal-child genomic care with Genome-wide Sequencing Ontario and CHILD-BRIGHT.
| Poster Wed Oct 21 2:30 pm Adolescents’ perspectives on the personal utility of genetic testing Clinical geneticsEducationEthical, legal, and social implicationsGenetic testing Poster Fri Oct 23 2:30 pm The Clinician-reported Genetic testing Utility InDEX for Critical Care (C-GUIDE Critical Care): Preliminary evidence of construct validity Clinical geneticsDiagnosticsPolicy issues |
Wilson Labwilsonlab.org Analyzes scRNA-seq, RNA sequencing and ChIP-exo data with comparative genomics. Studies genome regulation, evolution and human disease.
| Poster Wed Oct 21 2:30 pm Understanding Treatment Response and Disease Outcomes in Pediatric Lupus Using Whole Blood RNA-sequencing Autoimmune disorderBioinformaticsComplex diseasesRNA-seq Poster Thu Oct 22 4:15 pm Biallelic TOP2B TOPRIM domain variants identified in a child with syndromic developmental diease are perinatal lethal in mice Exome/genome sequencingModel organismsNeurodevelopmentalRare variants |
Centre for Applied Genomics (TCAG)tcag.ca Runs Illumina NovaSeq 6000, MiSeq, PacBio Sequel IIe and Oxford Nanopore PromethION platforms. Supports human genomics and disease research worldwide.
| Session Tue Oct 20 1:00 pm Poster Wed Oct 21 2:30 pm Genes/variants for diagnostic testing and pre-clinical research in Autism Spectrum Disorder. AutismNeurodevelopmentalIdentification of disease genesGenotype-phenotype correlations |
Cardiac Genome Clinictedrogersresearch.ca/cardiac-genome-clinic Investigates heart-failure genetics using genome-wide sequencing and standard genetics services. Uses patient clinical and genomic data to improve diagnosis, treatment and precision management.
| Poster Wed Oct 21 2:30 pm Congenital NAD deficiency disorder-associated gene variants in thoracic aortic aneurysms and aortic valve disease Cardiovascular systemCandidate geneCharacterization of disordersEtiology |
Hiraki Lablab.research.sickkids.ca/hiraki/our-team Studies rare systemic inflammatory disease using genome-wide sequencing in patient and family cohorts. Focuses on systemic lupus, neonatal lupus and immune-inflammatory dysregulation.
| Poster Fri Oct 23 2:30 pm Monozygotic triplets discordant for cardiac neonatal lupus erythematosus: case report and epigenetic pilot study Autoimmune disorderCardiovascular systemClinical geneticsEpigenetics |
Mital Lablab.research.sickkids.ca/mital Studies whole-genome, whole-exome and RNA-sequencing data, plus patient-derived iPSCs, in childhood heart disease. Applies findings to congenital heart disease, cardiomyopathy and pediatric heart failure.
| Poster Wed Oct 21 2:30 pm Blood-derived RNA-sequencing for detecting splice-disrupting variants in pediatric cardiac disorders Cardiovascular systemGenomicsMulti-omicsRNA-seq |
Ocular Genetics Programsickkids.ca/en/care-services/clinical-departments/ophthalmology-vision-sciences Performs whole-exome/whole-genome sequencing, visual electrophysiology and organoid/animal-model studies in inherited retinal disease. Supports genetic diagnosis, therapeutic development and patient-reported outcomes.
| Poster Wed Oct 21 2:30 pm Unbiased Long-Read Whole-Genome Sequencing Enables High-Resolution Mapping of Transgene Concatenation and Off-target Genomic Disruption in a Mouse Model Genome editing/CRISPRBioinformaticsTransgenic modelSequencing technology |
Ocular Genetics Research Teamsickkids.ca/en/care-services/clinical-departments/ocular-genetics Performs research genetic testing with whole exome and whole genome sequencing. Aims to improve genetic diagnosis and therapies for inherited retinal diseases.
| Poster Thu Oct 22 4:15 pm Developing Enzyme Assay as a Strategy to Validate ‘Variants of Uncertain Significance’ in Patients with Inherited Retinal Dystrophies Cellular metabolismGenetic testingGenetic variationGenotype-phenotype correlations |
Scott Lablab.research.sickkids.ca/scott Studies zebrafish cardiac development using transgenic and mutant models, live imaging, single-cell RNAseq and ATACseq. Targets congenital heart disease, cardiac regeneration and craniofacial malformations.
| Poster Thu Oct 22 4:15 pm Using deeply conserved developmental enhancers to identify a TBX20 enhancer mutation contributing to congenital heart disease Gene regulationRare variantsCardiovascular systemChromatin |
Strug Lablab.research.sickkids.ca/strug Develops statistical methods for cystic fibrosis and epilepsy genetics using RNA-seq, next-generation sequencing and PacBio long-read sequencing. Identifies therapeutic targets and builds prognostic models.
| Poster Thu Oct 22 4:15 pm Epigenetic Age Acceleration in Cystic Fibrosis Is Reversed by CFTR Modulator Therapy Through Reductions in Inflammation and Glycemia EpigeneticsLong-read sequencingMendelian disorderMethylation |
Technology Assessment at SickKids (TASK)lab.research.sickkids.ca/task Evaluates whole-genome, exome and pharmacogenomic testing using cost-effectiveness, microcosting and pediatric cohort data. Supports child-health technology and policy decisions.
| Poster Wed Oct 21 2:30 pm Including the Excluded: A Scoping Review to Understand the Concept of Personal Utility Among Underrepresented Communities Ethical, legal, and social implicationsPolicy issuesPsychosocial issuesGenetic counseling |
Statistical Analysistcag.ca/staff/index.html Analyzes Affymetrix, Illumina, aCGH, Agilent oligonucleotide, SNP-array and methylation-array data. Provides study design, power calculations, interpretation and grant-writing support to client projects.
| Moderator Sat Oct 24 8:15 am |
MacDonald Lab Works in rare disease. | Poster Fri Oct 23 2:30 pm Expanding the clinical applications of proteomics in rare Mendelian disorder diagnostics Clinical geneticsGenomicsMendelian disorderProteomics |
Marshall Lab Works in rare disease and clinical genetics. | Poster Wed Oct 21 2:30 pm Detection of ATAD3 Duplications in a Highly Homologous Genomic Locus by Combined Short- and Long-read DNA/RNA Sequencing Alternative splicingBioinformaticsClinical geneticsCopy number/structural variation |
Translational Genomics node of the Precision Child Health initiative Works in rare disease and clinical genetics. | Poster Fri Oct 23 2:30 pm Deploying a multi’omics approach to address the diagnostic gap in rare diseases: the DECODE(u)R study DiagnosticsLong-read sequencingMulti-omicsProteomics |
| 5 more presenters — research group not yet identified | |
Université de Montréal Montreal, Quebec | 26 PhD Students · 6 PIs · 4 Postdocs · 1 Undergrad |
Hussin's Computational Biomedicine Labmhi-omics.org/graduate-students Analyzes ECG, genomic, metabolomic, biobank and clinical-cohort data with machine learning and deep learning. Applies these methods to cardiovascular diagnostics, precision medicine and equitable AI.
| Poster Wed Oct 21 2:30 pm Poster Wed Oct 21 2:30 pm HLA diversity shapes the performance of peptide–HLA predictors across viral and cancer-derived epitopes Artificial intelligenceBioinformaticsCOVID-19Databases Poster Thu Oct 22 4:15 pm Diet Network: a deep learning framework for genetic ancestry inference across heterogeneous genomic datasets Deep learningGenomicsLarge-scale biobanksPolygenic risk score Poster Thu Oct 22 4:15 pm Generalizability of AI-derived ECG representations across ancestries and biobanks Artificial intelligenceCardiovascular systemGenome-wide association studyPopulation genetics Poster Thu Oct 22 4:15 pm Multi-ancestry genetic architecture of AI-derived electrocardiographic phenotypes Artificial intelligenceCardiovascular systemGenome-wide association studyPopulation genetics Poster Fri Oct 23 2:30 pm Promoting pandemic preparedness by leveraging AI strategies to capture epistatic viral-host interactions Artificial intelligenceBioinformaticsImmune systemCOVID-19 |
Jacquemont Labjacquemont-lab.org Analyzes SNVs, indels, CNVs, EHR, EEG, eye tracking and resting-state fMRI data. Uses Quebec 1000 Families and international cohorts to study cognition and neuropsychiatric conditions.
| Poster Wed Oct 21 2:30 pm Heterogeneity of Brain Dynamics in Genetic and Neurodevelopmental Disorders Complex diseasesCopy number/structural variationNeurodevelopmentalNeurogenetics Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Bridging Genetic Risk and Transcriptional Changes in Autism Spectrum Disorder: A Developmental Cell-Type AnalysisAutismNeurogeneticsRare variantsRNA-seq Poster Thu Oct 22 4:15 pm A Gene-Based CNV-GWAS Investigating Autism Risk AutismBioinformaticsCopy number/structural variationIntellectual and developmental disability Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Spatial MECP2 gradients reveal transcriptomic vulnerability of motor and language networks in Rett syndromeMendelian disorderMolecular pathophysiologyNeurodevelopmentalRNA-seq Poster Fri Oct 23 2:30 pm Using multi-omics knowledge graphs to discover novel neurodevelopmental disorders mechanisms Artificial intelligenceNeurodevelopmentalNeurogeneticsSystems biology Moderator Sat Oct 24 9:45 am |
Tétreault Laboratorymartinetetreaultlab.ca Combines WGS, RNA-seq, Oxford Nanopore long reads, 10X single-cell sequencing and CRISPR/Cas9 models. Studies Parkinson’s disease, ataxia and myopathies.
| Talk Wed Oct 21 2:23 pm A human IARS1 mechanism links deep intronic regulation and coding variation to tissue-specific myopathy Molecular pathophysiologyVariant interpretationGene regulationExome/genome sequencing Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice A human IARS1 mechanism links deep intronic regulation and coding variation to tissue-specific myopathyExome/genome sequencingGene regulationMolecular pathophysiologyMuscular abnormalities Poster Thu Oct 22 4:15 pm Integrative Omics Approach to Elucidate Molecular Signatures in Parkinsonisms NeurogeneticsTranscriptomeBioinformaticsRNA-seq Poster Thu Oct 22 4:15 pm Identifying novel genes involved in Sleepwalking Disorder throughWhole Exome Sequencing (WES) BioinformaticsGenomicsExome/genome sequencingFamily history Poster Fri Oct 23 2:30 pm Population-specific immune architectures in Parkinson's disease: insights from European and African-Caribbean cohorts RNA-seqVariant interpretationLinkage disequilibrium |
Lettre Lablettrelab.ca Analyzes whole-genome, single-cell RNA-seq, proteomics and pangenomic data. Runs CRISPR/Cas9 screens for cardiovascular and blood-disease precision medicine.
| Poster Wed Oct 21 2:30 pm Sex-stratified regional WGS-based association study identifies cell-type- and sex-specific regulatory elements at the COL4A1/COL4A2 locus for cardiovascular traits Genome-wide association studyCardiovascular systemMulti-omicsLarge-scale biobanks Poster Wed Oct 21 2:30 pm A pangenomic approach reveals new structural variants associated with gene expression in the CARTaGENE cohort Copy number/structural variationExpression quantitative trait lociGenomicsLarge-scale biobanks Poster Fri Oct 23 2:30 pm Whole-genome sequence analyses enable the discovery of rare and common genetic variants associated with hematological traits that are missed by imputation- and exome-based methods Genome-wide association studyHematopoietic systemPolygenic risk scoreRare variants Poster Fri Oct 23 2:30 pm Integrating single-cell multiomics and genetic fine-mapping prioritizes variants and genes implicated in hypertrophic cardiomyopathy Cardiovascular systemBioinformaticsGene regulationComplex diseases |
Legault Lablab.marclegault.com/en/index.html Develops bioinformatics, statistical and AI methods on genomics, transcriptomics, proteomics and metabolomics data. Applies them to inflammatory bowel disease and type 1 diabetes pharmacotherapy.
| Poster Wed Oct 21 2:30 pm Robust Mendelian Randomization Estimation using Weighted Quantile Regression Genetic epidemiologyMendelian randomizationStatistical genetics Poster Wed Oct 21 2:30 pm Integrating sociodemographic, clinical and multi-omic data to predict vascular complications in type 1 diabetes DiabetesMulti-omicsGenetic epidemiologyPrecision medicine Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Identification of inflammatory bowel disease-associated genes at the single-cell resolutionExpression quantitative trait lociMendelian randomizationGastrointestinal systemImmune system |
Samarut laboratory (Samlab)samlab.ca Studies rare-disease gene function in vivo using zebrafish and in vitro/in vivo models. Validates patient mutations and develops translational models for rare genetic diseases.
| Poster Wed Oct 21 2:30 pm RFC1, a gene involved in rare late-onset ataxia, regulates cerebellar neurogenesis NeurodegenerationTransgenic modelCharacterization of disordersBrain/nervous system Poster Fri Oct 23 2:30 pm THAP12 as a novel master regulator of mitochondrial function EpilepsyMetabolic disorderMitochondriaNeurodevelopmental Poster Fri Oct 23 2:30 pm From Gene to Seizure: Defining When THAP12 Loss Disrupts Brain Development and Triggers Epilepsy Candidate geneEpilepsyGene regulationNeurodevelopmental |
Taliun Labsgagliano.github.io/people Analyzes genetic, epigenomic and health datasets with statistical, computational and machine-learning methods. Studies aging-related neurodegenerative, cardiovascular and kidney diseases.
| Poster Thu Oct 22 4:15 pm PheWeb2.1: Exploring stratified GWAS and interaction results with the ability to easily append new summary statistics Gene environment interactionGenome-wide association studyPhenome-wide associationComplex diseases Poster Fri Oct 23 2:30 pm Integrative Bioinformatics Analysis Reveals Genetic Overlap Between Amyotrophic Lateral Sclerosis and Cardiometabolic Traits BioinformaticsCardiovascular systemComplex diseasesGenetic variation Poster Fri Oct 23 2:30 pm Autosomal type IV collagen genes display sex differences in genetic risk for hematuria Complex diseasesGenetic variationGenitourinary systemGenome-wide association study |
Manousaki Labmanousakilab.wordpress.com Analyzes pharmacogenomic genes with population-genetic, transcriptomic and phenotypic methods. Studies childhood cardiometabolic, bone-health and growth-related diseases and traits.
| Poster Wed Oct 21 2:30 pm The Genetic Prediction of Adult-onset Type 1 Diabetes Using Polygenic Scores DiabetesPolygenic risk scoreGenetic epidemiology Poster Thu Oct 22 4:15 pm Bidirectional Mendelian Randomization Study Identifies Protein Targets for Drug Repurposing in Type 1 Diabetes Autoimmune disorderDiabetesGenome-wide association studyMendelian randomization |
Anderson-Trocmé Labpopgen.ca Develops computational methods for population-scale genomic and genealogical records, including ancestral recombination graphs. Studies spatial ancestry, evolution, human history and biodiversity.
| Talk Thu Oct 22 9:15 am Beyond population labels: A continuous PCA-based framework for ancestry-aware population genomics statistics in gnomAD Population structureGenetic variationLarge-scale biobanksComputational tools |
Centre de recherche Azrieli du CHU Sainte-Justinerecherche.chusj.org/fr/Axes-de-recherche/Bio?id=62e6c513-6d7f-45d6-8747-0942e277b5d7 Supports single-cell genomics, Nanopore long-read sequencing, flow cytometry and microscopy. Advances prevention, diagnosis and treatment for mothers and children.
| Poster Wed Oct 21 2:30 pm Shortening the diagnostic odyssey through rapid genomic sequencing can feel “like a tornado” for parents: Parental experiences of rapid whole genome sequencing in the PRAGMatIQ study Psychosocial issuesGenomicsGenetic testingEthical, legal, and social implications Moderator Fri Oct 23 1:30 pm |
Dubé Labstatgen.org/fr/people.html Develops statistical and bioinformatic tools for UK Biobank, genotyping-array and plasma-proteomic data. Applies them to cardiovascular, metabolic and pharmacogenomic studies.
| Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Reduced cancer incidence associated with metformin use in DNMT3A-mutant clonal hematopoiesisCancerDiabetesHematopoietic systemPharmacogenomics |
Génétique et médecine génomique en inflammationicm-mhi.org/centre-de-recherche/laboratoires/laboratoires-fondamentaux/genetique-et-medecine-genomique-en-inflammation Uses genome-wide association studies, next-generation sequencing, bioinformatics and integrative biology to study inflammatory, metabolic and cardiovascular diseases. Supports diagnosis, treatment and research tools.
| Poster Fri Oct 23 2:30 pm iGenoMed-MTT: A Prospective Multi-Omics Study of Therapeutic Response to Advanced Therapies in Inflammatory Bowel Diseases ProteomicsPharmacologic therapy |
Haley Lablabohaley.com Develops CRISPR, RNAi, degron and 2D/3D cellular-model technologies for functional-genomics screens. Applies findings to cancer, drug resistance and cell, gene and nucleic-acid therapies.
| Poster Fri Oct 23 2:30 pm Genome-scale CRISPR activation screen analysis reveals state-aware growth regulators in cancer cells BioinformaticsCancerComputational toolsGenome editing/CRISPR |
LAVALLEE Lablavalleelab.com/home Uses bulk and single-cell genomic approaches, including single-cell and long-read sequencing, to study acute leukemia. Targets tumor-cell states, immune cells and leukemia predisposition.
| Poster Thu Oct 22 4:15 pm Sample-specific Transcriptome References reveal Cell-type-specific Isoform expression in Acute Myeloid Leukemia using Long-Read Single-Cell RNA Sequencing Long-read sequencingSingle-cellAlternative splicingBioinformatics |
Krajinovic Lab Works in clinical genetics and therapeutics. | Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Pharmacogenetics of bone toxicity in childhood leukemiaCancerPharmacogenomicsPolymorphismSNP analysis/discovery Poster Wed Oct 21 2:30 pm Expression associated polymorphisms and 6-mercaptopurine hematologic toxicity in pediatric acute lymphoblastic leukemia patients Genetic variationGenome-wide association studyGenomicsGenotype-phenotype correlations |
Yaghoobi Lab Works in rare disease and population genetics. | Poster Fri Oct 23 2:30 pm Congenital Adrenal Hyperplasia due to 21-hydroxylase gene mutations: Prevalence and mutational spectrum in a French-Canadian population and Phenome-wide Association Study Population geneticsGenotype-phenotype correlationsMendelian disorderPhenome-wide association |
| 3 more presenters — research group not yet identified | |
Stanford University Stanford, California | 17 Postdocs · 11 PhD Students · 5 PIs · 3 Staff Scientists |
Montgomery Labmed.stanford.edu/montgomerylab.html Uses next-generation RNA sequencing with bioinformatics and statistical genetics to study genetic effects on gene expression. Applies multi-omics and computational strategies to rare-disease diagnosis.
| Symposium Wed Oct 21 8:15 am Symposium Wed Oct 21 9:40 am Talk Wed Oct 21 2:11 pm Functional analysis of somatic variants across multiple tissues in SMaHT Gene regulationLong-read sequencingMosaicismMulti-omics Talk Wed Oct 21 2:15 pm Biobank-scale molecular profiling refines interpretation of rare recessive alleles in Mendelian disease genes BioinformaticsGene regulationGenetic variationIdentification of disease genes Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Identifying disease variants using deep learning predictions and personal multi-omicsDeep learningMulti-omicsRare variantsVariant interpretation Moderator Thu Oct 22 8:15 am Poster Thu Oct 22 4:15 pm Mapping gene-by-exercise effects in the MoTrPAC human exercise cohort using deep learning and multi-omics Cardiovascular systemComplex traitsDeep learningGene environment interaction Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Biobank-scale molecular profiling refines interpretation of rare recessive alleles in Mendelian disease genesBioinformaticsGene regulationGenetic variationIdentification of disease genes Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Functional Analysis of Somatic Variants Across Multiple Tissues in SMaHTGene regulationLong-read sequencingMosaicismMulti-omics Symposium Fri Oct 23 8:15 am Symposium Fri Oct 23 9:40 am |
Cardenas Labmed.stanford.edu/cardenas-lab.html Analyzes genome-wide DNA methylation, transcriptomics, metabolomics and miRNA data from human epidemiological studies. Studies environmental exposures, epigenetic aging and early-life adversity.
| Poster Wed Oct 21 2:30 pm Epigenome-wide association study of cardiovascular disease biomarkers in postmenopausal women from the Women’s Health Initiative Epigenome-wide association studiesMethylationCardiovascular systemWomen's health Poster Thu Oct 22 4:15 pm Blood-based epigenome-wide association study in relation to semen parameters in men: novel evidence for systemic correlates of male reproductive function Epigenome-wide association studiesInfertilityMethylationReproductive genetics Poster Thu Oct 22 4:15 pm Differential Protein Responses to Smoking Among Costa Ricans in a High-Longevity “Blue Zone” EpidemiologyEpigeneticsGene environment interactionGenetic epidemiology Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Epigenome-Wide Association Study of the Upper-Airway Microbiome Involved in Asthma Exacerbations Despite Inhaled Corticosteroid TreatmentAsthmaMicrobiomeMethylationEpigenome-wide association studies Poster Fri Oct 23 2:30 pm A Novel Next-Generation Epigenetic Clock based on Epigenetic Proxies of Clinical Laboratory Measures EpigeneticsMethylationMachine learningEpidemiology |
Pritchard Labweb.stanford.edu/group/pritchardlab/labMembers.html Uses statistical and computational methods for human genetics and evolutionary biology. Integrates genetic associations with perturb-seq and OPS to study gene regulation and complex traits.
| Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Genome-scale inference of gene regulatory networks from Perturb-seq enables discovery of regulatory programs underlying complex traitsComputational toolsGene regulationGenome editing/CRISPRMachine learning Moderator Fri Oct 23 1:30 pm Poster Fri Oct 23 2:30 pm A principled approach to assign directionality and map regulators of trait-relevant gene programs Expression quantitative trait lociRare variantsSingle-cell Poster Fri Oct 23 2:30 pm Improving Gene Effect Estimates with Functionally Informed Hierarchical GeneBayes Statistical geneticsRare variants Talk Sat Oct 24 8:45 am Integrative analysis of variant effects on gene dosage, complex traits, and fitness Complex traitsEvolutionary geneticsGene regulationProteomics |
Wheeler Labmed.stanford.edu/mattlab.html Analyzes WGS/WES, gene panels, long-read sequencing, RNA-seq, proteomics and multi-omics data. Applies these to rare-disease diagnosis, cardiomyopathy genetics and exercise biology.
| Moderator Thu Oct 22 8:15 am Poster Thu Oct 22 4:15 pm De Novo LRRC8A Gain-of-Function Variants Are Associated with a Syndromic Neurodevelopmental Disorder Mediated by Constitutive VRAC Activation Clinical geneticsExome/genome sequencingIdentification of disease genesMendelian disorder Poster Thu Oct 22 4:15 pm Individual drivers shaping post-exercise inflammatory stress-to-recovery kinetics: A MoTrPAC study BioinformaticsGenomicsImmune systemPrecision medicine Poster Fri Oct 23 2:30 pm Integrating Proteomic and Genetic Evidence to Identify Candidate Mutations in Undiagnosed Patients ProteomicsMulti-omicsIdentification of disease genesClinical genetics Poster Fri Oct 23 2:30 pm Recurrent WWC3 Missense Variants Affecting Asp1053 in Males with a Candidate Syndromic Connective Tissue Disorder and Aortic Root Dilation Candidate geneCharacterization of syndromesClinical geneticsExome/genome sequencing |
AGI Labioannidislab.ai Develops computational AI/ML methods for genomics and large-scale biobanks. Targets precision health with large tabular models and population genetics.
| Poster Wed Oct 21 2:30 pm Polygenic risk and association beyond additive effects Polygenic risk scoreMachine learningComplex traitsX-linked disease Poster Wed Oct 21 2:30 pm mdPCA: dimensionality reduction for highly missing data in population genetics BioinformaticsAncient DNAPopulation geneticsPopulation structure Poster Thu Oct 22 4:15 pm Migration, Settlement, and Selection in Native Hawaiians Genetic variationPopulation geneticsPharmacogenomics Session Sat Oct 24 8:15 am |
Witte Labmed.stanford.edu/… Analyzes biobanks, cohorts, whole-exome and genome-wide studies with machine learning. Develops risk-stratification, screening and prevention tools with clinical partners.
| Poster Wed Oct 21 2:30 pm Uncovering rare variant associations with prostate-specific antigen levels to enhance prostate cancer screening CancerComplex traitsGenetic epidemiologyIdentification of disease genes Talk Thu Oct 22 8:30 am Moving beyond population labels: Personalizing polygenic risk scores with genetic neighbors Polygenic risk scorePopulation structurePrecision medicineStatistical genetics Poster Fri Oct 23 2:30 pm Accounting for selected genetic regulators of prostate-specific antigen levels enhances prediction of aggressive prostate cancer Genetic epidemiologyPrecision medicinePolygenic risk scoreCancer Moderator Sat Oct 24 8:15 am |
Ashley Labashleylab.stanford.edu Sequences whole genomes and develops nanopore diagnostics, and analyzes ECG, echocardiography, cardiac MRI and wearable data. Uses them for genetic diagnosis, cardiomyopathy and precision medicine.
| Poster Thu Oct 22 4:15 pm Cardiac RNA-seq prioritizes rare splice-altering variants in dilated cardiomyopathy patients Alternative splicingBioinformatics Poster Thu Oct 22 4:15 pm An in silico framework for evaluating PRS-guided prognostic enrichment in clinical trial design Polygenic risk scoreStatistical geneticsLarge-scale biobanksPrecision medicine |
Klein Labvci-gci-docs.clinicalgenome.org/vci-gci-docs/more-information/about-us/the-team Develops VCI and GCI software infrastructure for gene-disease and variant curation. Makes curated assertions publicly available for genomic medicine.
| Poster Thu Oct 22 4:15 pm Clinical Genome Resource HLA Working Group: HLA Curation in Complex Diseases Clinical geneticsComplex traitsGenotype-phenotype correlationsPrecision medicine Poster Fri Oct 23 2:30 pm DEVELOPING A SCALABLE DATA MODEL ALIGNED WITH THE FORTHCOMING VARIANT CLASSIFICATION STANDARDS BioinformaticsComputational toolsPrecision medicineVariant interpretation |
Greicius Labgreiciuslab.stanford.edu Studies Alzheimer’s genetics using long-read sequencing, amyloid PET, tau PET/MR and T1-MRI data. Focuses on rare variants, APOE4 resilience and Alzheimer’s disease pathogenesis.
| Session Tue Oct 20 1:00 pm Talk Fri Oct 23 1:45 pm Population-scale whole-genome burden analysis identifies rare coding risk genes for Alzheimer's disease and Parkinson's disease Alzheimer’s diseaseRare variantsLarge-scale biobanksNeurodegeneration |
ClinPGxclinpgx.org/team Curates human genetic variation and gene-drug guidance in PharmGKB, CPIC and PharmCAT. Supports clinical implementation with St. Jude Children's Research Hospital.
| Poster Wed Oct 21 2:30 pm The Clinical Pharmacogenomics Resource (ClinPGx): Pharmacogenomics Curation for Research and Clinical Implementation PharmacogenomicsPrecision medicineDatabasesGenotype-phenotype correlations |
Division of Medical Geneticsmed.stanford.edu/medicalgenetics.html Develops iPSC models, genome editing, whole-genome sequencing, multi-omics and long-read sequencing for rare genetic disease diagnosis and therapy. Uses GREGoR and NIH Undiagnosed Diseases Network.
| Poster Fri Oct 23 2:30 pm Neuropsychiatric Manifestations in Myhre Syndrome: Expanding the Psychiatric Phenotype to Inform Early Recognition and Multidisciplinary Care Brain/nervous systemClinical geneticsClinical historyPhenotype |
Engreitz Labengreitzlab.org Uses CRISPR screens, Perturb-seq, RNA FlowFISH and computational models to map enhancer-gene regulation. Applies these maps to heart-disease variants and genome-editing therapies.
| Plenary Thu Oct 22 3:27 pm Coding and noncoding risk variants for congenital heart defects map to gene regulatory networks in valve cells Gene regulationGenetic variationCardiovascular systemDevelopment |
Stanford Prevention Research Centerprevention.stanford.edu Conducts interdisciplinary disease-prevention research using experimental methods, genomics, data science and epidemiology. Tests and disseminates prevention and control programs for chronic disease and population health.
| Poster Wed Oct 21 2:30 pm Leukocyte DNA methylation signatures for atherosclerotic cardiovascular disease risk prediction in the Million Veteran Program Cardiovascular systemEpigeneticsEpigenome-wide association studiesMethylation |
Snyder Labmed.stanford.edu/snyderlab/people/postdocs.html Develops proteome chips, high-resolution tiling arrays, ChIP-seq, paired-end sequencing and RNA-Seq technologies. Applies personal omics profiling to regulatory networks, human variation and disease.
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Stanford Center for Biomedical Informatics Research (BMIR)bmir.stanford.edu Works in computational genetics. | Talk Wed Oct 21 2:19 pm The MoTrPAC Data Hub: Resources for the molecular map of exercise ProteomicsMetabolomicsComputational toolsEpigenetics Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice The MoTrPAC Data Hub: Resources for the Molecular Map of ExerciseComputational toolsEpigeneticsMetabolomicsProteomics |
| 3 more presenters — research group not yet identified | |
University of Washington Seattle, Washington | 10 PIs · 10 PhD Students · 8 Staff Scientists · 5 Postdocs |
Booth Exhibiting (booth not yet listed) Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm | |
Fowler Labfowlerlab.gs.washington.edu Runs VAMP-seq to measure effects of thousands of missense variants. Uses functional-genomics data to interpret human genetic variation and disease.
| Talk Wed Oct 21 2:07 pm Gene- and domain-aware calibration increases the clinical utility of variant effect predictors Variant interpretationPrecision medicineMachine learningComputational tools Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Gene- and domain-aware calibration increases the clinical utility of variant effect predictorsComputational toolsGenetic testingMachine learningPrecision medicine Talk Thu Oct 22 11:30 am Multimodal functional data reveals pathogenicity, pathomechanism, and genotype-phenotype relationships for ~75,000 MAP kinase signaling pathway variants Cancer syndromesGenomicsMolecular pathophysiologyRare variants Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice MaveMD: A functional data resource for genomic medicineBioinformaticsDatabasesGenetic variationPrecision medicine |
Bamshad Labpeds.uw.edu/specialties/genetic-medicine/bamshad Studies human genomics using exome and whole-genome sequencing, DNA extraction and quantification. Supports rare-disease diagnosis and precision genetic medicine with families, clinicians and researchers.
| Poster Wed Oct 21 2:30 pm Dissecting parental "relief" in SeqFirst-neo: a mixed-methods analysis Clinical geneticsClinical testingExome/genome sequencingGenetic counseling Poster Thu Oct 22 4:15 pm A comparison of rare variant candidate search space between long read and short read sequencing and the impact of variant quality criteria on detection of clinically reported variants Clinical testingExome/genome sequencingLong-read sequencingSequencing technology Poster Thu Oct 22 4:15 pm A digital platform for education, pre-test counseling, and consent for rapid genome sequencing Exome/genome sequencingGenetic counselingGenetic testing |
Lindström Labresearch.fredhutch.org/lindstroem/en.html Analyzes GWAS, sequence data and summary statistics from dbGaP and UK Biobank. Studies shared genetic origins of cancer and gene-environment effects on disease risk.
| Poster Thu Oct 22 4:15 pm Genome-wide and local genetic correlation across breast, colorectal, and prostate cancers Genetic epidemiologyCancer Poster Fri Oct 23 2:30 pm Identifying shared and distinct biology across cancers using pathway-based polygenic risk scores Polygenic risk scoreCancerGenome-wide association studyGenetic epidemiology Poster Fri Oct 23 2:30 pm Assessing gene-environment interactions in the relationships between tobacco smoking, leukocyte telomere length, and smoking-related cancers CancerComplex traitsGene environment interactionGenetic epidemiology |
Stergachis Labstergachislab.org Develops Fiber-seq with m6A-MTases and PacBio circular consensus sequencing for chromatin and epigenome profiling. Applies patient-specific epigenetic data to rare genetic conditions and clinical genomics.
| Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice A telomere-to-telomere map of somatic mutation burdenSomatic variantsLong-read sequencingCancerChromosomal abnormalities Symposium Fri Oct 23 8:50 am Talk Fri Oct 23 11:15 am Somatic chromatin epimutations cap genetic determinism in the human diploid chromatin epigenome HaplotypeEpigeneticsGene regulationGenomics Session Sat Oct 24 8:15 am |
Miller Labmillerlaboratory.com Uses ONT and PacBio long-read DNA/RNA sequencing for Mendelian disease, methylation and structural-variation analysis. Works with the 1000 Genomes Project and clinical cases.
| Moderator Wed Oct 21 1:30 pm Poster Wed Oct 21 2:30 pm Long read sequencing for improved methylation classification of Mendelian conditions ChromatinLong-read sequencingMachine learningMendelian disorder Talk Thu Oct 22 8:30 am Haplotype-resolved structural variation and functional consequences across ancestrally diverse human populations Long-read sequencingMulti-omicsLarge-scale biobanks |
Bennett Labseattlechildrens.org/research/centers-programs/developmental-biology-regenerative-medicine/labs/bennett-lab Uses highly sensitive sequencing for tissue, blood and cfDNA somatic-mutation testing, including VANseq and exome sequencing. Studies vascular malformations, birth defects and craniofacial microsomia.
| Symposium Wed Oct 21 8:40 am Talk Fri Oct 23 2:15 pm Identification of somatic mutations in surgically resected tissues from individuals with craniofacial microsomia (CFM) Somatic variantsMosaicismMalformationGenetic variation |
Genetic Analysis Centerbiostat.washington.edu/research/centers/gac Develops statistical methods for WGS, GWAS and SNP data. Supports large-scale genomics consortia including GREGoR, PRIMED and ADSP.
| Poster Wed Oct 21 2:30 pm Genome-wide association study of structural variants with hematologic traits in the All Of Us Program Complex traitsCopy number/structural variationGenome-wide association studyHematopoietic system Poster Fri Oct 23 2:30 pm Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset GenomicsMendelian disorderMulti-omics |
Comparative Health Outcomes, Policy, and Economics (CHOICE) Institutesop.washington.edu/choice Analyzes Medicare Part B claims, Open Payments Data and genomic information with decision models, policy evaluation, health economics and statistics. Informs health-care and pharmaceutical policy.
| Talk Wed Oct 21 1:51 pm Cost-effectiveness of mono- and polygenic risk-guided breast cancer screening in the US Genetic testingCancerPolygenic risk scoreMathematical modeling Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Cost-effectiveness of mono- and polygenic risk-guided breast cancer screening in the USCancerGenetic testingMathematical modelingPolygenic risk score |
BAT Lab - Saturation Genome Editingbrotmanbaty.org/about/staff Runs sci-RNA-seq3 and sci-ATAC-seq3 with tissue dissociation, nuclei isolation and bioinformatics. Supports single-cell atlases and Seattle Hub projects with UW, Allen Institute and CZI.
| Poster Wed Oct 21 2:30 pm Saturation Genome Editing reveals the functional impact of RAD51D and XRCC2 variants CancerGenetic variationGenome editing/CRISPRVariant interpretation |
BAT Lab - Single Cell Teambrotmanbaty.org/about/staff Runs sci-RNA-seq3 and sci-ATAC-seq3 with tissue dissociation, nuclei isolation and bioinformatics. Supports single-cell atlases and Seattle Hub projects with UW, Allen Institute and CZI.
| Poster Fri Oct 23 2:30 pm Saturation Genome Editing of PALB2 reveals the functional impact of 12,855 variants CancerGenetic variation |
Blue Labdrlizblue.org Analyzes genome sequencing, proteomics, transcriptomics and genotype data with population genetics and genetic epidemiology methods. Works with ADSP, CMGs, GREGoR and the Pacific Northwest UDN.
| Poster Wed Oct 21 2:30 pm Local-ancestry effects on the relationship between APOE variation and lipids and inflammatory markers Genetic epidemiologyHaplotypePopulation structurePrecision medicine |
Center for Clinical and Translational Researchseattlechildrens.org/research/centers-programs/clinical-and-translational-research Uses clinical and research informatics with EHR, imaging and genomic data. Improves pediatric care through clinical trials, precision medicine and learning health systems.
| Poster Thu Oct 22 4:15 pm The Diagnostic Yield and Added Value of Genome Sequencing as a First-Line and Sequential Genetic Test in 1,000 Pediatric Outpatients Clinical geneticsClinical testingExome/genome sequencingGenomics |
Eichler Labeichler.gs.washington.edu Analyzes SMRT and Oxford Nanopore long-read data for structural-variant discovery, phasing and genome assembly. Applies methods to human disease, primate evolution and 1000 Genomes datasets.
| Poster Wed Oct 21 2:30 pm |
Genetic Analysis Center (GAC)biostat.washington.edu/research/centers/gac Develops statistical methods for WGS, GWAS and SNP data. Supports large-scale genomics consortia including GREGoR, PRIMED and ADSP.
| Poster Wed Oct 21 2:30 pm Establishing a Coordinating Center to enhance collaboration and communication in the Alzheimer’s Disease Sequencing Project (ADSP) Alzheimer’s diseaseStatistical genetics |
Gray Labobgyn.uw.edu/research/mfm-research Uses genetics to improve non-invasive prenatal screening and study adverse pregnancy outcomes. Focuses on stillbirth, preeclampsia and fetal anomalies.
| Poster Fri Oct 23 2:30 pm Preterm preeclampsia GWAS of 12,793 genomes from the TOPMed BCC-PREG and nuMoM2b-HHS cohorts identifies a novel risk locus and shared genetic architecture with cardiometabolic disease Reproductive geneticsWomen's healthLarge-scale biobanksExome/genome sequencing |
Institute for Public Health Geneticsiphg.biostat.washington.edu Uses whole-genome sequencing, nanopore sequencing and multiomic profiling in genetic epidemiology. Trains students to apply genomics to population health, ethics, law and policy.
| Poster Wed Oct 21 2:30 pm Dissecting T-cell mediated mechanisms of action for aspirin chemoprevention of colorectal cancer CancerSingle-cellPrecision medicineGastrointestinal system |
Jayadev Labjayadevlab.net Studies neurodegeneration using human cellular models, genomics and multiomic analyses of human brain tissues. Focuses on Alzheimer’s disease, microglia and neuro-immune mechanisms.
| Poster Fri Oct 23 2:30 pm Endolysosomal genetic risk shapes microglial states and lysosomal dysfunction in Alzheimer’s disease Alzheimer’s diseaseGenetic variationImmune systemPolygenic risk score |
Sakaue Labsaorisakaue.github.io/team Develops statistical methods for 10X Multiome RNA/ATAC, whole-genome and biobank data. Uses them to map disease alleles and predict polygenic risk, especially for immune dysfunction.
| Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Haplotype-resolved references of the large and recurrent 17q21.31 human inversion highlight population diversity, selection signatures, and disease associationsGenome-wide association studyCopy number/structural variationPopulation geneticsAncient DNA |
Sakaue Lab @ Genome Sciences, UWsaorisakaue.github.io Develops statistical methods for 10X Multiome RNA/ATAC, whole-genome sequences and genotyping microarray data. Studies how genetic variations affect disease susceptibility.
| Talk Thu Oct 22 11:15 am Resolving the regulatory impact of non-coding disease risk alleles throughout human embryogenesis by single-cell multiomic profiling of advanced stem cell-derived models of post-implantation embryos DevelopmentMulti-omicsSingle-cellVariant interpretation |
Starita Labstaritalab.org Develops MAVE assays and runs sci-RNA-seq3 and sci-ATAC-seq3 single-cell profiling experiments. Applies them to clinical variant classification and vertebrate embryogenesis models.
| Symposium Fri Oct 23 8:20 am |
Valdmanis Labsites.google.com/view/valdmanislab Studies tandem repeats and RNA using long-read, whole-genome and synaptosome sequencing. Develops AAV gene therapy and CRISPR/Cas9 approaches for ALS, Alzheimer’s disease and liver cancer.
| Talk Fri Oct 23 2:00 pm Somatic deletions in the brain preserve the reading frame of APOE in Alzheimer’s disease Alzheimer’s diseaseGenetic instabilityGenomic structureLong-read sequencing |
Wijsman Groupfaculty.washington.edu/wijsman Develops quantitative methods for human genetic data, including sequence data, pedigree data and dense genetic markers. Applies them to gene mapping, inheritance and genetic epidemiology.
| Poster Thu Oct 22 4:15 pm Misclassification of high‑risk Individuals by ancestry-standardized polygenic risk scores Is correlated with unmodelled genetic diversity of GWAS source samples Polygenic risk scoreComplex diseasesComplex traitsGenetic testing |
Pej Labpejlab.org Builds statistical and machine-learning models for RNA sequencing, long-read, spatial and single-cell sequencing data. Applies them to regulatory genomics, rare disease and complex-trait genetics.
| Moderator Wed Oct 21 11:00 am |
UW Center for Rare Disease Research Works in rare disease. | Talk Wed Oct 21 1:30 pm Variants in SFPQ underlie a novel dominant neurodevelopmental syndrome Delineation of diseasesIdentification of disease genesMendelian disorderNeurodevelopmental Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Variants in SFPQ underlie a novel dominant neurodevelopmental syndromeDelineation of diseasesIdentification of disease genesMendelian disorderNeurodevelopmental |
Darst Group Works in cancer genetics. | Poster Wed Oct 21 2:30 pm Rare population-specific HOXB13 variants and prostate cancer risk in the All of Us Research Program CancerGenetic epidemiologyHaplotypeLarge-scale biobanks |
Lin Lab Works in computational genetics. | Poster Fri Oct 23 2:30 pm esVI: A deep learning framework reveals post-translational drivers of RNA-protein discordance in immune and microglial cells from CITE-seq Single-cellMulti-omicsImmune systemAlzheimer’s disease |
National Human Genome Research Institute Bethesda, Maryland | 10 Staff Scientists · 7 PIs · 5 Postdocs · 2 PhD Students |
Booth Exhibiting at Booth 208 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm | |
Genomics of Autoimmune Rheumatic Disease Sectiongenome.gov/… Studies genetic ancestry, whole-blood DNA methylation and single-cell RNA-seq in SLE. Uses patient cohorts and multi-omics to study disease heterogeneity and health disparities.
| Poster Thu Oct 22 4:15 pm The architecture of haplotype-resolved X chromosome methylation in B and T cells in systemic lupus erythematosus Autoimmune disorderLong-read sequencingMethylation Poster Fri Oct 23 2:30 pm Clonal Hematopoiesis of Indeterminate Potential (CHIP) somatic mutations are associated with late age of onset and epigenetic remodeling in systemic lupus erythematosus (SLE) Autoimmune disorderEpigenome-wide association studiesMethylationMosaicism Poster Fri Oct 23 2:30 pm DNA methylation profiles are associated with geographically distinct immune-related signatures in systemic lupus erythematosus patients from Peru and the United States Autoimmune disorderGenomicsPopulation geneticsMethylation |
NIH Undiagnosed Diseases Program (UDP)genome.gov/Current-NHGRI-Clinical-Studies/NIH-Undiagnosed-Diseases-Program Uses family genome sequencing, SNP-array testing, methylation testing and RNA-sequencing to investigate undiagnosed disease. Advances rare disease diagnostics and medical knowledge about rare and common diseases.
| Poster Wed Oct 21 2:30 pm From variant discovery to functional characterization: a novel homozygous SULT1B1 missense variant underlies peripheral thyroid hormone dysregulation in a rare undiagnosed disease Rare variantsMendelian disorderEndocrine systemAutoimmune disorder Poster Wed Oct 21 2:30 pm Patterns of Undiagnosed Diseases over 18 Years DiagnosticsGenomicsClinical geneticsClinical testing Poster Fri Oct 23 2:30 pm Structural variants in SETX contribute to the long diagnostic odyssey of individuals with spinocerebellar ataxia with axonal neuropathy 2 AtaxiaCopy number/structural variationLong-read sequencingMendelian disorder |
Childhood Complex Disease Genomics Sectiongenome.gov/… Uses whole genome sequencing, genomics, epigenomics and transcriptomics with well-phenotyped cohorts. Studies childhood diseases with global collaborators through CAfGEN and H3Africa.
| Symposium Fri Oct 23 8:15 am Symposium Fri Oct 23 9:40 am Moderator Fri Oct 23 1:30 pm Poster Fri Oct 23 2:30 pm IL12B transcription at the 5q33 candidate locus is induced by immune stimulation and localizes to B cell subtypes in a tissue-specific manner BioinformaticsExpression quantitative trait lociSingle-cellRNA-seq |
Center for Genomics and Data Science Researchgenome.gov/about-nhgri/Division-of-Intramural-Research/Center-for-Genomics-and-Data-Science-Research Analyzes long-read sequencing and whole-genome data, and runs CRISPR, oligo synthesis and yeast genetics. Studies genome function, variation and disease.
| Poster Wed Oct 21 2:30 pm Sex differences in placental gene expression and intraplacental variation in normotensive versus hypertensive pregnancies Reproductive geneticsRNA-seqTranscriptomeX-linked disease Poster Fri Oct 23 2:30 pm Reproducible autosomal gene expression changes with loss of typical X and Y complement across tumor types CancerBioinformaticsGenomicsTranscription |
Center for Research on Genomics and Global Healthgenome.gov/about-nhgri/Center-for-Research-on-Genomics-and-Global-Health Generates genotyping, biomarker and gene-expression data with Sequenom, DMET, Bio-Plex and Affymetrix platforms. Studies metabolic disorders and health disparities in African and African American populations.
| Poster Wed Oct 21 2:30 pm Gene–Smoking Interaction Analysis Link SKAP2-Associated Immune Regulatory Pathways to Central Adiposity–Related Mortality Risk Expression quantitative trait lociGene environment interactionGenome-wide association studyObesity Poster Fri Oct 23 2:30 pm Single Nucleus RNA Sequencing of an Aldh7a1 Knockout Mouse Model Reveals Cell-Specific Effects on Energy Metabolism and Glucose Homeostasis Pathways Complex diseasesDiabetesObesitySingle-cell |
Extramural Research Program (ERP)genome.gov/about-nhgri/Organizational-chart Funds and manages programs involving genome sequencing and analytical approaches. Supports universities, research institutes and commercial entities.
| Poster Wed Oct 21 2:30 pm Evaluating the feasibility of genome-wide iPSC-based null allele phenotyping: funding trajectory, organizational structure, and early impact of the MorPhiC consortium Genome editing/CRISPRDatabasesStem cellPolicy issues Poster Wed Oct 21 2:30 pm The IGVF Consortium: Public Resources to inform Genomic Variant Analysis DatabasesGenetic variation |
Organic Acid Research Sectiongenome.gov/… Studies methylmalonic acidemia with AAV vectors, 13C isotopomer metabolism, mouse and zebrafish models, and patient cohorts. Develops gene therapies and evaluates renal and neurologic disease.
| Poster Wed Oct 21 2:30 pm Long-term morbidity and mortality following solid organ transplantation in mmut-methylmalonic acidemia Natural historyMetabolic disorderGenotype-phenotype correlationsBiochemical pathology Poster Fri Oct 23 2:30 pm Exploring the role of MCEE function in intermediary metabolism using zebrafish models Cellular metabolismComplex diseasesDevelopmentMetabolic disorder |
Venditti Labirp.nih.gov/pi/charles-venditti Runs patient natural-history studies, mouse and zebrafish models, AAV gene therapy, RNA profiling and 13C isotopomer metabolism. Focuses on methylmalonic acidemia and cobalamin disorders.
| Poster Thu Oct 22 4:15 pm Natural History Study Reveals Putative Biochemical-Clinical Correlations in Adenylosuccinate Lyase Deficiency Biochemical pathologyMetabolic disorder Poster Fri Oct 23 2:30 pm Exploring the methylmalonylome in neuronal and renal tissue in methylmalonic acidemia Biochemical pathologyMetabolic disorderMolecular pathophysiology |
Center for Research on Genomics and Global Health (CRGGH)genome.gov/about-nhgri/Center-for-Research-on-Genomics-and-Global-Health Generates genotyping, biomarker and gene-expression data with Sequenom, DMET, Bio-Plex and Affymetrix platforms. Studies metabolic disorders and health disparities in African and African American populations.
| Talk Wed Oct 21 1:30 pm G6PD deficiency and sickle cell trait have different impacts on HbA1c screening for abnormal glucose tolerance and monitoring diabetes treatment in continental Africans DiabetesPublic healthPrecision medicineGenetic epidemiology Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice G6PD Deficiency and Sickle Cell Trait Have Different Impacts on HbA1c Screening for Abnormal Glucose Tolerance and Monitoring Diabetes Treatment in Continental AfricansClinical testingDiabetesGenetic epidemiologyPrecision medicine |
Office of the Directorgenome.gov/about-nhgri/Office-of-the-Director Oversees genomic data science and coordinates genomic research for NIH. Provides NHGRI leadership, policy, administration, and management strategy.
| Symposium Wed Oct 21 8:15 am Symposium Wed Oct 21 9:40 am Session Thu Oct 22 10:00 am |
Division of Genomics and Societygenome.gov/about-nhgri/Division-of-Genomics-and-Society Coordinates multidisciplinary ELSI research and training on genetic and genomic research. Addresses societal issues with individuals, families and communities.
| Poster Wed Oct 21 2:30 pm Connecting with NHGRI’s Ethical, Legal, and Social Implications (ELSI) research program Ethical, legal, and social implicationsGenomics Session Thu Oct 22 10:00 am |
Center for Precision Health Researchgenome.gov/Current-NHGRI-Clinical-Studies/Genomic-Services-Research-Program Develops genomic and informatic tools using UK Biobank, genotype/phenotype databases and electronic healthcare datasets. Supports rare-disease care, genetic-disorder trials and NIH Clinical Center studies.
| Poster Thu Oct 22 4:15 pm Piloting the v4 ACMG/AMP/ClinGen pathogenicity criteria on RYR1-MHS variant classification: Impact of weighting population data, case information and segregation Laboratory genetics and genomicsPharmacogenomicsPrecision medicineVariant interpretation |
Genomic Functional Analysis Sectiongenome.gov/… Analyzes Illumina DNA methylation arrays plus transcriptomic and chromatin data to study gene regulation in cancer and genetic disease. Develops blood-based cancer biomarkers.
| Poster Fri Oct 23 2:30 pm Building a staged cell-free DNA methylation and fragmentomics workflow for cancer screening and tumor tissue-of-origin prediction using EM-seq datasets CancerEpigeneticsMachine learningMethylation |
Metabolic Medicine Branchgenome.gov/research-at-nhgri/Investigators Runs AAV-vector, mouse, zebrafish, organoid and stem-cell studies alongside clinical metabolic research. Develops treatments for organic acidemias, mitochondrial disorders and skeletal dysplasias.
| Talk Sat Oct 24 8:15 am AAV gene addition therapy for MMACHC-related combined methylmalonic acidemia and homocystinuria, cobalamin C type (cblC) Metabolic disorderTransgenic modelGene therapy |
Reproductive Cancer Genetics Sectiongenome.gov/… Studies endometrial-tumor exomes and somatic mutations identified by next-generation sequencing. Functionally evaluates driver genes in clinically aggressive endometrial cancer.
| Poster Fri Oct 23 2:30 pm Permanent neurological sequelae associated with fluoroquinolone exposure: A case series PharmacogenomicsCharacterization of disordersGene environment interactionClinical history |
Division of Genome Sciencesgenome.gov/about-nhgri/Division-of-Genome-Sciences Supports genomic technology, RNA-seq and ChIP-seq programs. Builds shared resources for gene regulation, developmental expression and genomic variation.
| Session Thu Oct 22 10:00 am |
Division of Genomic Medicinegenome.gov/about-nhgri/Division-of-Genomic-Medicine Plans and facilitates multidisciplinary genomic-medicine research through grants, training grants and contracts. Advances genomic data use in diagnosis, treatment and prevention of disease.
| Session Thu Oct 22 10:00 am |
Precision Health Informatics Section Works in rare disease and population genetics. | Talk Thu Oct 22 1:30 pm Thiazide Diuretics Are Associated with Reduced Risk of Incident Dementia: A Phenomic-Genomic Study in All of Us, Mount Sinai Million, and UK Biobank Alzheimer’s diseaseCardiovascular systemLarge-scale biobanksPharmacogenomics Poster Thu Oct 22 4:15 pm Phenome and genome-guided discovery of Mendelian contributors to treatment-resistant hypertension in All of Us Clinical geneticsComplex traitsElectronic health recordsLarge-scale biobanks |
Comparative Genomics and Reproductive Health Section Works in computational genetics. | Poster Wed Oct 21 2:30 pm Chromosome level assemblies define the utility and limits of short read Y chromosome analyses Variant callingMethodologyCopy number/structural variationChromosomal structure/function |
Inflammatory Disease Section Works in computational genetics and clinical genetics. | Poster Wed Oct 21 2:30 pm Increased myeloid clonal hematopoiesis in Systemic Lupus Erythematosus Autoimmune disorderExome/genome sequencingMosaicismSomatic variants |
Precision Genomics Section Works in rare disease and clinical genetics. | Poster Thu Oct 22 4:15 pm Comparative functional analysis of AKT1 D323N and Proteus syndrome-associated AKT1 E17K variant reveals prolonged AKT1 signaling and delayed pathway attenuation by the AKT1 D323N variant Clinical geneticsGenomicsMosaicismPrecision medicine |
Undiagnosed Diseases Program Works in rare disease. | Poster Thu Oct 22 4:15 pm Biallelic pathogenic POLR3A variants in an adult proband with juvenile-onset progressive sensory ataxia mimicking Friedreich ataxia Alternative splicingAtaxiaGenotype-phenotype correlationsMendelian disorder |
| 4 more presenters — research group not yet identified | |
University of Chicago Chicago, Illinois | 18 PhD Students · 4 PIs · 4 Postdocs · 1 Faculty |
Gilad Labgiladlab.uchicago.edu/labmembers Studies gene-regulatory evolution using bulk and single-cell RNA sequencing, ATAC-seq and comparative iPSC panels. Connects genetic variation to phenotypes in humans and primates.
| Poster Wed Oct 21 2:30 pm Evidence for regulatory gene expression variability in human cell types Gene regulationRegulation of transcriptionGenomics Poster Wed Oct 21 2:30 pm A dispersion-based framework for evaluating clustering resolution in single-cell RNA-seq data Single-cellRNA-seqBioinformaticsImmune system Poster Wed Oct 21 2:30 pm A single-cell resource for characterizing gene expression responses to drug toxicity across cell types and individuals Single-cellDeep learningPharmacogenomicsGene regulation Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Functional characterization of divergent cis-regulatory elements in humans and chimpanzees at single-nucleotide resolutionEvolutionary geneticsGene regulationGenetic variationMulti-omics Talk Thu Oct 22 11:30 am Cis and trans contributions to cell type-specific regulatory evolution in primates EpigeneticsSingle-cellMulti-omicsGene regulation Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Comparative analysis of human and chimpanzee liver cell responses to innate immune stimulationDifferentiationEvolutionGene regulationImmune system Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Characterizing regulatory mechanisms underlying divergence in gene expression fidelity between humans and chimpanzeesGene regulationMulti-omicsQuantitative traitGenomics |
LIU LAB @ UChicagoliulab.uchicago.edu Combines statistical methods with RNA-seq, ChIP-seq, ATAC-seq, CUT&TAG, scRNAseq and scATACseq data. Studies trans gene regulation and disease biology.
| Poster Wed Oct 21 2:30 pm The integration of trans-regulation and rare variant associations reveal novel pathology of Alzheimer’s disease Alzheimer’s diseaseIdentification of disease genesStatistical geneticsRare variants Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Linking Common and Rare Variant Associations Identifies Disease-Mediating Genes in Crohn’s DiseaseComplex diseasesAutoimmune disorderRare variantsGenetic variation Poster Thu Oct 22 4:15 pm The perturbome informs the genetic architecture of complex human traits and drug target identification BioinformaticsGene regulationRare variantsStatistical genetics Talk Sat Oct 24 8:15 am OPERA: A Scalable Framework for Identifying Disease-Mediating Gene Programs from Perturb-seq Data Statistical geneticsIdentification of disease genesGenome-wide association studyGenome editing/CRISPR |
Pierce Labvoices.uchicago.edu/piercelab Studies DNA methylation, sequencing and array measurements in GTEx tissues and arsenic-exposed Bangladeshi cohorts. Targets cancer susceptibility, arsenic toxicity, aging and prostate cancer disparities.
| Poster Thu Oct 22 4:15 pm Cigarette smoking shapes the adaptive immune transcriptome and B cell repertoire across human tissue types Alternative splicingCancerImmune systemTranscriptome Poster Thu Oct 22 4:15 pm Extracting DNA methylation from long-read sequencing data at population scale: a validated framework applied to the All of Us cohort EpigeneticsEpigenome-wide association studiesLong-read sequencingMethylation Poster Thu Oct 22 4:15 pm Multi-ancestry fine-mapping of the TERT/CLPTM1L locus and its pleiotropic effects on telomere length, blood cells, clonal hematopoiesis, and epigenetic aging. CancerGenetic mappingGenetic variationGenome-wide association study |
Ober Labober.bsd.uchicago.edu/people.php Studies asthma genetics using whole-genome/exome sequencing, SNP genotypes, DNA methylation, transcriptomic profiling and cell culture. Uses Hutterite, Amish and birth-cohort data to study disease risk.
| Poster Wed Oct 21 2:30 pm Context-specific eQTLs in upper airway immune cells during viral colds at the 17q12-21 childhood asthma locus AsthmaExpression quantitative trait lociGene environment interactionGene regulation Poster Fri Oct 23 2:30 pm |
Dahl Labsites.google.com/view/andywdahl/people Develops statistical genetics methods for single-cell RNA sequencing and biobank-based genetic studies. Targets complex-disease heterogeneity and patient subtypes with distinct causal biology.
| Moderator Fri Oct 23 1:30 pm Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Choice of phenotype scale is critical in biobank-based G×E testsGenome-wide association studyLarge-scale biobanksPolygenic risk score |
Barreiro Labluis-barreirolab.org Combines RNA-seq and single-cell technologies with PBMC biobank, immunological assays and population genetics. Studies immune variation, infection responses and disease susceptibility across populations and primates.
| Symposium Fri Oct 23 8:50 am |
Center for Personalized Therapeuticscpt.uchicago.edu/people-2-2 Evaluates pharmacogenomic markers and genetic data in clinical trials. Supports personalized chemotherapy, medication decisions and patient care.
| Poster Thu Oct 22 4:15 pm Cisplatin-induced gene expression patterns reveal resistance and sensitivity insights across cancer types CancerPharmacogenomicsTranslational studies and preclinical trialsTranscriptome Session Sat Oct 24 8:15 am |
Im Labhakyimlab.org Develops computational methods for RNA-seq, methylomic, proteomic and MRI data. Applies PrediXcan to UK Biobank, All of Us, TOPMed and MESA studies.
| Poster Fri Oct 23 2:30 pm Shared and distinct transcriptional signatures of drug response across human cell types PharmacogenomicsBioinformaticsMachine learningPrecision medicine |
Institute for Population & Precision Healthipphlab.uchicago.edu/capabilities Runs genome-wide SNP arrays, methylation assays, targeted sequencing, qPCR, MiSeq, HiSeq and Luminex assays on human biospecimens. Supports large-scale population health studies and precision medicine.
| Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Somatic mutation profile in unaffected colon tissue in Colorectal Carcinoma patients: Functional effect on Differential Gene expression and potential use in Precision Medicine.GenomicsPrecision medicineSomatic variantsTranscriptome |
Li Labthelilab.com Studies single-cell RNA-seq and chromatin-accessibility QTL data using computational biology and statistical genetics. Focuses on gene regulation, RNA splicing and splice-switching drugs in human disease.
| Talk Thu Oct 22 9:00 am Big models cheat, small models learn: Interpretable splice-site prediction with Angler Artificial intelligenceDeep learningMachine learningRNA |
Luca Lablucalab.org/people Studies gene-environment interactions using gene expression, chromatin accessibility, scATAC-seq and RNA-seq data. Applies functional and evolutionary genomics to complex biomedical traits.
| Symposium Fri Oct 23 9:00 am |
Nobrega Labnobregalab.uchicago.edu Studies gene regulation using zebrafish transgenic reporter assays, mouse hearts, RNA-Seq and ChIP-Seq. Targets enhancers and regulatory variation in heart development, asthma and diabetes.
| Talk Fri Oct 23 2:15 pm Integrating computational genetics and functional genomics reveals palmitoylation as a therapeutically targetable pathway in asthma AsthmaExpression quantitative trait lociGenome editing/CRISPRStatistical genetics |
Novembre Labjnpopgen.org/team Develops computational tools for large-scale genomic, haplotype, and low-coverage ancient human DNA data. Studies human genetic variation, heritable disease traits, and evolutionary processes.
| Talk Wed Oct 21 11:45 am Understanding genetic and environmental complexity in phenotypic resemblance across relatedness in population-scale data Complex traitsHeritabilityLarge-scale biobanks |
Pott Labpott-lab.uchicago.edu/people-2 Develops scNOMe-seq, scATAC-seq and PacBio-based single-molecule assays, plus organoid and CRISPR systems. Studies gene regulation in IBD, atrial fibrillation and human tissues.
| Talk Thu Oct 22 9:30 am Dissecting genetic effects on gene regulatory mechanisms with single-molecule footprinting ChromatinLong-read sequencingStatistical geneticsGene regulation |
SIMONS Labyuvalsimons.org Studies human complex traits with population and quantitative genetics using GWAS and genomic datasets. Focuses on evolution, genetic architecture, mutation load and speciation.
| Poster Thu Oct 22 4:15 pm The great human mutagenesis experiment Identification of disease genesPopulation geneticsStatistical geneticsRare variants |
Zhang Labzhanglaboratory.org/team Studies cortical neurogenesis and RNA isoforms using single-cell and spatial transcriptomic data, iPSC-derived organoids and neurons. Targets mechanisms and therapies for neurodevelopmental disorders.
| Talk Sat Oct 24 8:30 am Transcriptome-wide Mendelian randomization reveals widespread antagonistic pleiotropy between reproductive fitness and complex diseases Evolutionary geneticsMendelian randomizationComplex traits |
| 7 more presenters — research group not yet identified | |
Explore the full ASHG 2026 dataset
Get in-depth attendee and institution profiles and research, to plan your meetings in Montréal. Leave your work email and we’ll be in touch.
What is in this guide?
Every organization we can place at ASHG 2026: 3,124 presenters and moderators from the public program (3,082 presentations) rolled up to their institutions and companies, plus the 186 exhibitors from the ASHG exhibitor directory — 1,046 organizations in one list. Where we have identified the research group behind a presentation, it is listed under its institution.
How are organizations typed?
Academic tiers reflect an institution’s genetics and genomics research activity — its publication output and active NIH genetics funding. Industry is split by what a company sells — drug developers, clinical testing labs, and everything sold to labs (instruments, reagents, software, data, services) — with the finer types available as filters.
How current is it?
Pulled from the official program planner on September 9, 2026; abstract text publishes September 14 and late-breaking abstracts are added as ASHG posts them.
Organizations with their own page
318 organizations — every exhibitor and every organization with 5 or more presentations.
- 10X Genomics
- 23andMe
- 2D Tubes by AutoGen
- 5 Prime Sciences
- Academia Sinica
- Active Motif
- Adept Scientific
- Advaita
- Agena Bioscience
- Agilent Technologies
- AiLife Diagnostics
- Alida Bio
- Amazon Web Services (AWS)
- Ambry Genetics
- American Board of Medical Genetics and Genomics (ABMGG)
- American College of Medical Genetics
- American Society of Human Genetics
- Analytik Jena
- Arima Genomics
- AstraZeneca
- Atrandi Biosciences
- AutoGen
- Azenta
- Baylor College of Medicine
- Baylor Genetics
- BCF Life Sciences
- BD Biosciences
- Beckman Coulter Life Sciences
- Beren Therapeutics
- Bio Molecular Systems
- Bio-Rad Laboratories
- BioAro
- Biocompare
- biomodal
- BioNano Genomics
- Biosero
- BioView
- Boston Children's Hospital
- Breakthrough Genomics
- Brigham and Women's Hospital
- Broad Clinical Labs
- Broad Institute
- Brown University
- Bruker Spatial Biology
- Case Western Reserve University
- Cedars-Sinai Medical Center
- Cell Press
- Center for Inherited Disease Research (CIDR)
- Centogene
- Centre for Addiction and Mental Health
- Centre Hospitalier Universitaire Sainte-Justine
- Chiesi Global Rare Diseases
- Children's Hospital of Philadelphia
- Children's Mercy Hospital
- Chungbuk National University
- Cincinnati Children's Hospital Medical Center
- ClairLabs
- Claret Bioscience
- CleanNA
- Cleveland Clinic
- Codon One
- Columbia University
- Columbia University Irving Medical Center
- Complete Genomics
- Concordia University
- Coriell Institute For Medical Research
- Cornell University
- Covaris
- CU Anschutz Department of Biomedical Informatics
- CyteSi
- Dana-Farber Cancer Institute
- Dartmouth College
- DeNovix
- Deriva.ai
- DNA Genotek
- DNAnexus
- DNASTAR
- DT Health AI
- Duke University
- EarthFrame
- Elements Biosciences
- Emory University
- EnGenome srl
- EpiCypher
- EpigenDx
- EpiSign
- Eppendorf
- ESHG
- Fingenious®
- FinnGen
- Fred Hutch Cancer Center
- Fudan University
- Fulcrum Genomics
- Fulgent Genetics
- Gene by Gene
- GeneDx
- Genetic Engineering & Biotechnology News (GEN)
- Genetics Adviser
- Geneyx
- GenomeArc
- Genomenon
- GenomeWeb
- Genomics
- GenQA
- Gentueri
- Ghent University
- Global Alliance for Genomics and Health (GA4GH)
- Golden Helix
- Génome Québec
- Haga Bioscience AB
- Hamad bin Khalifa University
- Hamilton Company
- Hanoi School Of Public Health
- Harvard Medical School
- Harvard University
- Helix
- Hospital for Sick Children
- Huazhong University of Science and Technology
- Icahn School of Medicine at Mount Sinai
- IFHGS-International Federation Human Genetics Societies
- Illumina
- IMPC - International Mouse Phenotyping Consortium
- Indiana University School of Medicine
- Inserm
- insitro, inc.
- Institut des Maladies Génétiques Imagine
- Institut Pasteur
- Institut universitaire de cardiologie et de pneumologie de Québec
- Institute for Molecular Medicine Finland
- Integrated DNA Technologies
- Intelliseq
- Isohelix
- John Wiley & Sons
- Johns Hopkins University
- Keio University
- KIDS First
- King's College London
- Knowledge Portal Network (KPN)
- Kontron
- Korea Research Institute of Bioscience and Biotechnology
- Korea University
- Kura Biotech
- LabCorp
- LAM Therapeutics
- Lebanon Valley College
- LexigenBio
- Lucid Genomics
- Mass General Brigham
- Massachusetts General Hospital
- Mayo Clinic
- McGill Genome Centre
- McGill University
- Medical College of Wisconsin
- Meridian Lifescience
- Metabolon
- MetaSystems Group
- Meteor Biotech
- MicroPure Genomics
- Miltenyi Biotec
- MIRCORE
- Mission Bio
- Montreal Heart Institute
- Multidisciplinary Digital Publishing Institute
- n6
- Nabsys
- Nagoya City University
- Nagoya University
- Nanjing Medical University
- Nanyang Technological University
- NashBio
- National Cancer Institute
- National Center Biobank Network
- National Center for Biotechnology Information
- National Human Genome Research Institute
- National Institute on Aging
- National Institutes of Health
- National Taiwan University
- Nationwide Children's Hospital
- Nautilus Biotechnology
- Network Bio
- Neurofibromatosis Society of Ontario
- New England Biolabs
- New York Genome Center
- Nightingale Health
- NIH Common Fund
- Nomic Bio
- Norgen Biotek Corporation
- Northeastern University
- Northwestern University
- Novogene Bioinformatics Institute
- Omega Bio-Tek
- OMIM - McKusick-Nathans Institute of Genetic Medicine
- Orphanet
- Oxford Nanopore Technologies
- Oxford University Press
- Pacific Biosciences
- Pando Bioscience
- Paragon Genomics
- Parse Biosciences
- Pennsylvania State University
- PhenoTips
- PhenX Toolkit
- PreventionGenetics
- Princeton University
- Psomagen
- QIMR Berghofer Medical Research Institute
- Quantum-Si
- Queen's University
- Quest Diagnostics
- R&D Systems
- Radboud University Medical Center
- Rare Diseases: Models and Mechanisms Network
- Regeneron
- Renew Biotechnologies
- Revvity
- Rigshospitalet
- RNAConnect
- Roche Sequencing Solutions
- SCC Soft Computer
- Science/AAAS
- Seer
- Seoul National University
- Seoul National University Hospital
- SeqCenter
- Seqera
- SeqOne
- seqWell
- Shorthills AI
- Simons Foundation
- SoftGenetics
- Sophia Genetics
- Southwestern Medical Center
- Springer Nature
- SPT Labtech
- St. Jude Children's Research Hospital
- Stanford University
- Stratec
- SUNY Upstate Medical University
- SynOligo Biotechnologies
- Takara Bio
- Tasso
- Tecan
- Technical University of Munich
- Technology Partnership
- The Coordinating Center
- The Genome Partnership
- The University of Texas Health Science Center at Houston
- The University of Tokyo
- Thermo Fisher Scientific
- Toboggan Labs
- Translational Genomics Research Institute
- TruDiagnostic
- TSS LINK, Inc.
- Tulane University
- Twist Bioscience
- UAB Center for Precision Animal Modeling (C-PAM)
- Ultima Genomics
- Universidade de São Paulo
- University of Alabama at Birmingham
- University of Arizona
- University of Bristol
- University of British Columbia
- University of California San Diego
- University of California, Davis
- University of California, Irvine
- University of California, Los Angeles
- University of California, San Francisco
- University of California, Santa Cruz
- University of Cambridge
- University of Chicago
- University of Colorado Anschutz
- University of Edinburgh
- University of Exeter
- University of Florida
- University of Georgia
- University of Helsinki
- University of Hong Kong
- University of Kansas
- University of Leicester
- University of Manchester
- University of Manitoba
- University of Miami
- University of Michigan
- University of Michigan Medical School
- University of Minnesota
- University of North Carolina at Chapel Hill
- University of Oxford
- University of Pennsylvania
- University of Pittsburgh
- University of Southern California
- University of Tartu
- University of the Witwatersrand
- University of Toronto
- University of Utah
- University of Virginia
- University of Washington
- University of Wisconsin–Madison
- Université de Montréal
- Université de Sherbrooke
- Université du Québec à Chicoutimi
- Université Laval
- UT Health Houston, McWilliams School of Biomedical Informatics
- Vanderbilt University
- Vanderbilt University Medical Center
- VarSome
- Vazyme
- VectorBuilder
- Velsera/Seven Bridges
- Virginia Commonwealth University
- Washington University in St. Louis
- Watchmaker Genomics
- Wellcome Sanger Institute
- WellPact
- Western University
- Yale University
- Yonsei University
- Zymo Research Corporation
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