ASHG 2026 Exhibitors
Oct 20–24, 2026 Montréal, Canada ~7.5k attendees Website
189 organizations exhibit at ASHG 2026 — 163 companies, 13 universities and research institutes, 10 government and non-profit bodies and 3 hospitals and health systems. 73 of them also present on the scientific program, with 300 presentations between them. Most represented: National Human Genome Research Institute (42 on the program), University of Washington (39 on the program), Vanderbilt University Medical Center (20 on the program). 189 of them have their own page in this guide. As of Sep 25, 2026.
Scientific focus
Top represented
Showing 1–30 of 189 organizations
| Organization | ASHG 2026 Attendance |
|---|---|
National Human Genome Research Institute Bethesda, Maryland | 10 Staff Scientists · 7 PIs · 5 Postdocs · 2 Clinicians |
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.
| Session Wed Oct 21 2:45 pm Symposium Fri Oct 23 8:15 am Symposium Fri Oct 23 9:40 am Session 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 |
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 9:00 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 |
UDP Translational Laboratorygenome.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 Fri Oct 23 2:30 pm Partial alveolar epithelial correction by HPS1 gene augmentation attenuates pulmonary fibrosis in a founder-variant mouse model Gene therapyRespiratory systemTransgenic modelLysosomal diseases |
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 |
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.
| Session Wed Oct 21 8:15 am 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 |
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 |
| 8 more presenters — research group not yet identified | |
University of Washington Seattle, Washington | 11 PIs · 9 PhD Students · 8 Staff Scientists · 6 Postdocs |
Booth Exhibiting (no floor booth 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.
| Session 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 |
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 Poster Thu Oct 22 4:15 pm Fine-mapping HLA eQTL causal variants using donor-specific genome assemblies with paired long-read epigenetic and transcriptomic sequencing ChromatinExpression quantitative trait lociGene regulationImmune system |
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 |
Cornell Laboratorycornell-lab.org Studies gene-regulatory networks using zebrafish, human cell lines and induced pluripotent stem cells. Tests orofacial-cleft variants and embryonic cell differentiation.
| Poster Wed Oct 21 2:30 pm Conservation of transcriptional regulatory networks in zebrafish and human periderm facilitates identification of GRHL1 as an orofacial cleft risk gene Transcription factorSystems biologySingle-cellModel organisms |
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 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.
| Session 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 |
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 |
Vanderbilt University Medical Center Mt Juliet, Tennessee | 5 PhD Students · 3 Postdocs · 3 Faculty · 1 PI |
Booth Exhibiting at Booth 111 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm | |
Below Labthebelowlab.com/our-team Develops computational methods for GWAS, whole-blood RNA-seq and EHR-linked biobanks. Applies them to cardiometabolic disease, stuttering and Alzheimer’s disease.
| Poster Wed Oct 21 2:30 pm Longitudinal multi-omics data unravels complex biological processes related to T2D in a Hispanic/Latino (HL) population Complex diseasesDiabetesMulti-omicsTranscriptome Talk Thu Oct 22 9:15 am Local ancestry differentially impacts protein quantitative trait locus estimation in an ancestrally admixed cohort Computational toolsMathematical modelingProteomicsQuantitative trait Poster Thu Oct 22 4:15 pm Post-GWAS analyses reveal insights on the underlying genetic and neurological mechanisms of stuttering Complex traitsTranscriptomeNeurogeneticsBrain/nervous system Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Characterizing the variant landscape of ALPL and associated medical records in a clinical cohort enriched for African ancestry highlights the diagnostic failure of HPP in this populationBone/joint abnormalitiesElectronic health recordsMendelian disorderRare variants |
Computational Neurogenomics Teamvumc.org/cnt Analyzes genomic, proteomic, neuroimaging and neuropathology data, including amyloid PET and diffusion MRI. Focuses on Alzheimer’s disease risk, resilience and sex differences.
| Poster Fri Oct 23 2:30 pm Demographic, genetic, and cardiometabolic factors influence blood-based biomarkers of the central nervous system – Insights from a diverse population-based cohort Alzheimer’s diseaseGenomicsNeurodegenerationProteomics Poster Fri Oct 23 2:30 pm Sex-predominant genetic and transcriptomic architecture of Alzheimer’s disease cerebrospinal fluid biomarkers Alzheimer’s diseaseNeurogeneticsPopulation geneticsPrecision medicine |
Vanderbilt Genetics Institutemedschool.vanderbilt.edu/humangenetics/hgen-faculty Analyzes genome-wide association, whole-exome/whole-genome sequencing and EHR-linked BioVU data. Studies human disease genetics with national and international consortia.
| Poster Wed Oct 21 2:30 pm Predicted placental gene expression supports shared biology of neurodevelopmental traits and adult medication usage DevelopmentExpression quantitative trait lociRegulation of transcriptionPrecision medicine Poster Wed Oct 21 2:30 pm |
Center for Precision Medicinevumc.org/cpm/person/our-team Uses patient health care records and genetic information from a DNA repository patterned after BioVU. Identifies genotype/phenotype associations and genotype/treatment relationships.
| Talk Wed Oct 21 2:19 pm Genome-wide association analysis of ACE inhibitor–induced angioedema in patients of African ancestry Exome/genome sequencingGenome-wide association studyPharmacogenomics Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Genome-wide Association Analysis of ACE Inhibitor–Induced Angioedema in Patients of African AncestryExome/genome sequencingGenome-wide association studyPharmacogenomics |
Center for Digital Genomic Medicinemedsites.vumc.org/dgm Uses EHR, genetic, environmental and wearable-device data for rare-disease identification and prognostic modeling. Builds VUMC resources and tests methods in randomized clinical trials.
| Poster Fri Oct 23 2:30 pm NICU EHR phenotypes identify risk for genetic diagnosis after NICU discharge BioinformaticsClinical geneticsDatabasesGenetic testing |
eMERGE Networkemerge-network.org Combines DNA biorepositories, electronic medical records and the eMERGEseq sequencing platform. Uses phenotype algorithms, polygenic risk scores and genomic risk assessments to implement genomic medicine.
| Poster Fri Oct 23 2:30 pm Assessment of an LLM tool for analysis of complex medical data and outcomes within the eMERGEseq Vanderbilt cohort DatabasesElectronic health recordsGenetic testingGenomics |
Glazer Labandrewglazerlab.com/people Uses BioVU, eMERGE, UK Biobank, All of Us, SyncroPatch, and deep mutational scans. Reclassifies uncertain variants in arrhythmia and ion-channel disease.
| Poster Wed Oct 21 2:30 pm Deep Mutational Scanning Assays for Functional Profiling of All Missense Variants in CACNA1C, TBX5, and BMPR2 Variant interpretationRare variantsCardiovascular systemGenetic variation |
Informaticsvictr.vumc.org/leadership Builds software, data pipelines and cloud solutions for EHR, DNA-sequence, radiology-image and survey data. Supports clinical researchers and the All of Us Research Program.
| Poster Fri Oct 23 2:30 pm SysBio FAIRplex: a FAIR platform for enabling disease pathway research and exploring systems biology Artificial intelligenceBioinformaticsDatabasesMachine learning |
Vanderbilt-Ingram Cancer Center, Hereditary Cancer Programmedsites.vumc.org/… Studies hereditary cancer using pedigree data and genomic and tumor DNA. Translates genetic insights into clinical care through evaluation, counseling and testing.
| Poster Fri Oct 23 2:30 pm A Phenome-Wide Association Study of EGFR Germline Variants and Lung Cancer CancerPhenome-wide associationGenetic epidemiologyLarge-scale biobanks |
Velez Edwards and Edwards Labsmedsites.vumc.org/velezedwards-edwardslab/team Studies genetic determinants using EHR-linked DNA, genome-wide arrays, sequencing and the Right from the Start cohort. Focuses on women’s health, reproductive outcomes and complex traits.
| Poster Wed Oct 21 2:30 pm Leveraging Human Genetics to Identify Repurposable Therapies for Endometriosis Women's healthPrecision medicineMendelian randomizationPharmacologic therapy |
Wei Labvumc.org/wei-lab Develops EHR phenotyping methods using longitudinal EHR, genetic data and the OMOP Common Data Model. Applies them to precision medicine and cardiovascular risk prediction.
| Poster Fri Oct 23 2:30 pm Bridging the inherited retinal disease diagnosis gap: identifying undiagnosed cases through electronic health record phenotyping and genotype-first ascertainment in the linked biobank BioVU Electronic health recordsLarge-scale biobanksVisual systemsRare variants |
Center for Women's Health Researchvumc.org/whr/welcome Leverages EHR databases linked to DNA, biorepositories, and genetic, transcriptomic and metabolomic data. Focuses on reproductive outcomes, maternal-child health and prevention.
| |
Division of Genetic Medicine and Clinical Pharmacology Works in clinical genetics and therapeutics. | Poster Wed Oct 21 2:30 pm Assessment of actionable pharmacogenetic variants and medication exposure in BioVU whole-genome sequencing data Precision medicineElectronic health recordsClinical genetics |
| 2 more presenters — research group not yet identified | |
Illumina San Diego, California | 1 Senior Manager · 1 Vice President and Global Head of Advanced Science · 1 Sr Director, R&D · 1 Sr Director, Scientific Research-Advanced Platforms · 1 other presenter |
Illumina sells DNA sequencing and array-based technologies. It serves research, clinical, and applied-market customers.
| Booth Exhibiting at Booth 701 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Session Tue Oct 20 10:00 am Session Tue Oct 20 1:00 pm Plenary Tue Oct 20 5:00 pm Automated interpretation of rare disease genomes with deep graph attention Artificial intelligenceBioinformaticsVariant interpretationGenotype-phenotype correlations Poster Wed Oct 21 2:30 pm Proximity-informed structural variant detection with Illumina TruPath Genome Copy number/structural variationGenomic structureSequencing technology Poster Wed Oct 21 2:30 pm A unified deep learning framework for quantitative splicing and transcript prediction Alternative splicingArtificial intelligenceDeep learningGenomics Poster Wed Oct 21 2:30 pm Reverse-engineering genetic architecture of human diseases from 1.3M human genomes with EHR data Phenome-wide associationGenotype-phenotype correlationsRare variantsComplex traits Poster Wed Oct 21 2:30 pm Impact of CYP2D6 Allele Content on Metabolizer Phenotype Assignment: Contribution of AMP Tier 2 Alleles to Phenotype Concordance PharmacogenomicsPopulation geneticsPrecision medicine Session Wed Oct 21 2:45 pm Poster Thu Oct 22 4:15 pm Poster Thu Oct 22 4:15 pm Adapting Illumina Single Cell 3’ RNA Kit for 3′ Single Cell V(D)J Enrichment: Enabling Paired TCR α/β Recovery on the MiSeq™ i100 Plus Alternative splicingSingle-cellImmune systemTranscriptome Poster Thu Oct 22 4:15 pm Reliable detection of uniparental disomy from trio sequencing data using chromosome scale inheritance patterns BioinformaticsClinical geneticsCopy number/structural variationChromosomal abnormalities Poster Fri Oct 23 2:30 pm A streamlined method for simultaneous, high accurate methylation profiling and whole genome sequencing in FFPE sample types MethylationGenomicsExome/genome sequencingEpigenetics Poster Fri Oct 23 2:30 pm Significant optimization of sequencing performance for T2T genomes, including long homopolymers via modification of reaction conditions for sequencing. Triplet and other repeatsCopy number/structural variationExome/genome sequencingGenetic mapping Poster Fri Oct 23 2:30 pm Enabling flexible small-scale Illumina Spatial Technology workflow for benchtop sequencing platforms Multi-omicsNon-coding RNARNASpatial transcriptomics Poster Fri Oct 23 2:30 pm Resolving challenging genes for nonsyndromic sensorineural hearing loss using on flowcell proximity sequencing Sequencing technologyVariant callingCopy number/structural variationLaboratory genetics and genomics Poster Fri Oct 23 2:30 pm Multiplexed high throughput NGS based proteomics assay using CSF and cell or tissue lysates optimized for discovery and translational research Brain/nervous systemMassively parallel sequencingMulti-omicsProteomics Poster Fri Oct 23 2:30 pm Advancing Whole-Exome Sequencing Through Optimized Coverage and Enrichment Performance Exome/genome sequencingLaboratory genetics and genomicsGenetic testingGenomics Poster Fri Oct 23 2:30 pm Targeted Profiling of CYP2D6, CYP2B6 and CYP21A2 in an Integrated Exome-Based NGS Workflow Clinical testingComputational toolsCopy number/structural variationExome/genome sequencing Poster Fri Oct 23 2:30 pm Clinical laboratory experience with paired‑end sequencing–based noninvasive prenatal screening for 22q11.2 deletion: A retrospective analysis BioinformaticsCell-free DNACopy number/structural variationNIPT Poster Fri Oct 23 2:30 pm Inter-individual multiomics improves subtype resolution and risk stratification in cardiovascular disease Multi-omicsCardiovascular systemGene regulationMachine learning |
LabCorp Burlington, Vermont | 1 Lab Director · 1 Senior Applied Research Scientist in Oncology · 1 Data scientist · 1 Statistical Geneticist · 4 other presenters |
Labcorp is a global leader of innovative and comprehensive laboratory services that helps doctors, hospitals, pharmaceutical companies, researchers and patients make clear and confident decisions.
| Booth Exhibiting at Booth 1024 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Session Wed Oct 21 1:30 pm Talk Wed Oct 21 1:43 pm Poster Wed Oct 21 2:30 pm Diagnostic Yield and Clinical Utility of Genetic Testing in Unaffected Relatives with a Family History of Sudden Cardiac Death Genetic testingCardiovascular systemChannelopathiesClinical genetics Poster Wed Oct 21 2:30 pm Preoperative Lynch syndrome diagnosis and surgical outcomes in colorectal cancer: Evaluating resection extent, post-operative complications, and rates of metachronous and other cancers CancerGenetic testingPublic healthCancer syndromes Poster Wed Oct 21 2:30 pm Retrospective virtual panel modeling of carrier and high-risk couples detection by panel size in a large clinical reproductive carrier screening cohort Clinical testingGenetic counselingReproductive geneticsWomen's health Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Sex-driven gaps in guideline-concordant follow-up after population genomic screening for hereditary cancer, cardiovascular, and metabolic conditionsGenetic testingCancer syndromesGenetic epidemiologyPrecision medicine Poster Wed Oct 21 2:30 pm From global calibration to gene-aware evidence: calibrating pathogenicity predictions for real-world variant interpretation Artificial intelligenceVariant interpretationMethodologyGenetic testing Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Ancestry‑wide analysis of real‑world genomic testing reveals clinically relevant disparities in cancer prevalence, immunotherapy biomarkers, and variant actionabilityCancerClinical testingDiagnosticsEpidemiology Talk Thu Oct 22 8:15 am Closing the equity gap in variant classification: Machine learning-driven evidence demonstrates differential impact across race and ethnicity Computational toolsEthical, legal, and social implicationsGenetic testingMachine learning Talk Thu Oct 22 11:30 am Talk Thu Oct 22 2:15 pm Surveying the structural variant landscape in genetic testing: Prevalence and diagnostic yield in a clinical cohort of 1.8 million individuals Clinical geneticsCopy number/structural variationDiagnosticsGenetic testing Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice The impact of an iterative points-based framework on variant classification outcomes for neurodevelopmental disorders.Artificial intelligenceVariant interpretationNeurodevelopmentalClinical testing Poster Thu Oct 22 4:15 pm Applying Single Cell Transcriptomics and Machine Learning to Classify SCN1A Variants According to Disease Mechanism Laboratory genetics and genomicsGenomicsMachine learningGenetic variation Poster Thu Oct 22 4:15 pm A machine learning framework for accurate SMN1 copy number determination from short-read next-generation sequencing data BioinformaticsCopy number/structural variationGenomicsMachine learning Poster Thu Oct 22 4:15 pm Biochemical data and genetic testing: combining datasets to help classify variants Laboratory genetics and genomicsVariant interpretationPhenotypeMetabolic disorder Poster Fri Oct 23 2:30 pm Assessment of Structural and Copy Number Variants in Constitutional Samples Using Electronic Genome Mapping AneuploidyChromosomal abnormalitiesClinical testingCopy number/structural variation Poster Fri Oct 23 2:30 pm Validating gain- and loss-of-function multiplexed assay of variant effect (MAVE) predictions using linked genetic testing and biochemical datasets: a CASR case study Variant interpretationGenotype-phenotype correlationsMendelian disorderRare variants Poster Fri Oct 23 2:30 pm Evidence supporting RPS20 as a colorectal cancer susceptibility gene from a case-control study CancerCancer syndromesGenetic epidemiologyGenetic testing Poster Fri Oct 23 2:30 pm A conversational AI agent for multi-domain clinicogenomic research analytics with layered human-in-the-loop verification Artificial intelligenceComputational toolsDatabasesGenotype-phenotype correlations Poster Fri Oct 23 2:30 pm Single-cell transcriptomic variant effect mapping of clinically relevant MSH3 variants Machine learningMassively parallel sequencingVariant interpretation |
Ambry Genetics Aliso Viejo, California | 2 Scientists · 1 Variant Assessment Scientist · 1 Bioinformatics Scientist and Engineer · 1 Genetic Counselor · 2 other presenters |
Clinical genetic testing laboratory serving healthcare providers with hereditary cancer, rare disease, and specialty genomic testing.
| Booth Exhibiting at Booth 1201 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Talk Wed Oct 21 2:03 pm Concurrent long-read genome sequencing with methylation pattern analysis enhances diagnostic yields in the UCI-GREGoR rare disease cohort BioinformaticsComputational toolsDiagnosticsEpigenetics Poster Wed Oct 21 2:30 pm Multi-Scale Mechanistic Interpretability of Genomic Foundation Models via Layer-Fused Sparse Autoencoders Enables Scalable Non-Coding VUS Resolution GenomicsIdentification of disease genesVariant interpretation Poster Wed Oct 21 2:30 pm Solving Lynch syndrome missing heritability by integrating long-read DNA sequencing and short-read RNA sequencing Cancer syndromesHeritabilityLong-read sequencingMethylation Poster Wed Oct 21 2:30 pm MAVE Progress Report, Clinical Implementation of High-Throughput Functional Assays CancerGenetic testingRare variantsVariant interpretation Poster Wed Oct 21 2:30 pm Optimizing clinical next-generation sequencing workflows through evidence-based expansion of statistical confirmation criteria Exome/genome sequencingTargeted sequencingBioinformaticsClinical genetics Poster Wed Oct 21 2:30 pm Evaluating Secondary Findings in Prenatal Exome Sequencing: A Study of Uptake and Yield for ACMG and Childhood Onset Disorder Results Clinical geneticsClinical testingExome/genome sequencingGenetic counseling Poster Wed Oct 21 2:30 pm The ATM Splice-ome: Charting the multifaceted splicing landscape of ATM CancerDiagnosticsGene regulationSplicing mechanisms Talk Thu Oct 22 2:00 pm HiFi long read genome sequencing after negative clinical exome sequencing in a consecutive cohort increases diagnostic yields Rare variantsClinical testingLong-read sequencingLaboratory genetics and genomics Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Concurrent Long-Read Genome Sequencing with Methylation Pattern Analysis Enhances Diagnostic Yields in the UCI-GREGoR Rare Disease CohortBioinformaticsComputational toolsDiagnosticsEpigenetics Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Piloting the Forthcoming ACMG/AMP/CAP/ClinGen Standards for Sequence Variant ClassificationClinical testingGenetic testingLaboratory genetics and genomicsVariant interpretation Poster Thu Oct 22 4:15 pm Long-Read Genome Sequencing Enables Detection of Pathogenic Tandem Repeat Expansion in the UCI-GREGoR Rare Disease Cohort AtaxiaLong-read sequencingTriplet and other repeats Poster Fri Oct 23 2:30 pm Into the Abyss: Mapping the Landscape of Deep Intronic Pathogenicity CancerVariant interpretationClinical geneticsLaboratory genetics and genomics |
Regeneron Tarrytown, New York | 1 Employee · 1 Senior Manager, RGC · 1 Statistical Geneticist · 1 SVP and Chief Genomics and Data Sciences Officer |
Regeneron invents, develops, and commercializes medicines for serious diseases. Its work spans biologics, genetic medicines, and cell therapies.
| Booth Exhibiting at Booth 507 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Systematic extraction of 4,434 imaging-derived phenotypes in 95,000 UK Biobank participants drives genetic discovery and validationComplex traitsLarge-scale biobanksRare variantsIdentification of disease genes Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Exome-Wide Association Study of Type 2 Diabetes in 132,045 South Asians reveals Population-Enriched Protective Variants and Novel Therapeutic TargetsDiabetesLarge-scale biobanksRare variantsGenomics Poster Thu Oct 22 4:15 pm Loss-of-function variants in the DNA Mismatch Repair genes POLD1, PMS1 and FAN1 modify age at onset of motor symptoms in Huntington’s Disease. Exome/genome sequencingRare variantsNeurodegenerationTriplet and other repeats Poster Thu Oct 22 4:15 pm Poster Fri Oct 23 2:30 pm SBAT-REMETA: Combining rare-variant burden scores from summary statistics boosts gene discovery in multi-cohort studies Statistical geneticsRare variantsLarge-scale biobanksGenome-wide association study Poster Fri Oct 23 2:30 pm Whole-Exome Sequencing for Severe Inflammatory Bowel Disease: Genetic Architecture and Emerging Candidate Genes Clinical geneticsDiagnosticsGastrointestinal systemImmune system Poster Fri Oct 23 2:30 pm Identifying genetic variants with large effects on risk of depression using severe phenotypes DepressionPolygenic risk scorePsychiatric geneticsGenetic epidemiology Poster Fri Oct 23 2:30 pm Predicting diseases of high mortality and morbidity from 4,434 imaging and 99 non-imaging biomarkers in 95,000 UK Biobank participants Artificial intelligenceMathematical modelingMachine learningLarge-scale biobanks Poster Fri Oct 23 2:30 pm Ancestry-specific associations with adult height in 2.1 million diverse exomes Complex traitsExome/genome sequencingRare variantsSkeletal system Talk Sat Oct 24 8:15 am A distinct subset of autoimmune diseases defined by profound co-prevalence and genetic risk association with the IL12 pathway Autoimmune disorderIdentification of disease genesGenome-wide association studyRare variants Session Sat Oct 24 11:15 am 1 invited symposium speaker |
St. Jude Children's Research Hospital Memphis, Tennessee | 4 PIs · 2 Postdocs · 2 Staff Scientists · 1 PhD Student |
Booth Exhibiting at Booth 211 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm | |
Mefford Labstjude.org/research/labs/mefford-lab.html Uses short-read and long-read genome sequencing, genome-wide methylation arrays and patient-derived organoids. Studies genetic and epigenetic causes of pediatric epilepsy for precision therapies.
| Poster Wed Oct 21 2:30 pm Pathogenic GNAI1 variants disrupt GPCR signaling and alter neurodevelopment in human iPSC-derived neurons and cortical organoids EpilepsyMolecular pathophysiologyNeurodevelopmentalSingle-cell Poster Fri Oct 23 2:30 pm Improving missense variant interpretation through re-evaluation of ACMG criteria and incorporation of methylation analysis in CHD2-NDD Variant interpretationNeurogeneticsNeurodevelopmentalEpigenetics Also |
Genetics Groupstjudecab.github.io/Genetics_team Analyzes WGS, WES, genotype and RNA-seq data with computational genetics methods. Studies pediatric cancer, rare nonmalignant blood diseases and neurodegenerative disorders.
| Poster Wed Oct 21 2:30 pm AI-enabled fine-mapping of GWAS signal from age at onset in sporadic amyotrophic lateral sclerosis identifies a regulatory variant at PDE4D that creates a neuronal NF-Y CCAAT-box enhancer Genome-wide association studyExpression quantitative trait lociArtificial intelligenceNeurodegeneration Poster Fri Oct 23 2:30 pm Integrating AI-assisted hypothesis generation with survival GWAS nominates candidate genetic modifiers of ALS survival Artificial intelligenceNeurogeneticsGenome-wide association studyNeurodegeneration |
Savic Labstjude.org/research/labs/savic-lab/savic-lab-team.html Uses massively parallel reporter assays, CRISPR-based functional screening, and epigenomic and transcriptomic profiling in childhood leukemia. Studies enhancer regulation, drug response and resistance.
| Session Thu Oct 22 11:00 am |
Wu Labstjude.org/research/labs/wu-lab-gang.html Analyzes whole-genome sequencing and targeted long-read bisulfite-sequencing data with bioinformatics and multi-omics integration. Studies disease-predisposition variants, neurodegeneration and genome instability.
| Poster Wed Oct 21 2:30 pm |
Division of Cancer Predispositionstjude.org/research/departments/oncology/cancer-predisposition.html Studies hereditary cancer predisposition using genetic testing, mouse models and bioinformatics analysis of pediatric cancer genomes. Supports surveillance and family-centered care.
| |
Epidemiology and Cancer Control Works in cancer genetics and population genetics. | Poster Thu Oct 22 4:15 pm Multi-ancestry genetic analysis identifies novel contributors to endocrine dysfunction in childhood cancer survivors: a report from the St. Jude Lifetime Cohort Study Endocrine systemGenetic epidemiologyGenome-wide association studyCancer |
Helix San Mateo, California | 2 Senior Research Scientist · 1 Medical Director · 1 Associate Director Research · 1 Senior Staff Scientist |
Helix sells population-scale genomic testing, clinico-genomic data, and research tools to health systems and life-science companies.
| Booth Exhibiting at Booth 1200 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Plenary Tue Oct 20 5:57 pm Population genomic screening for CDC Tier 1 conditions drives guideline-concordant care across 428,626 participants from 13 health systems Genetic testingPopulation geneticsClinical geneticsPrecision medicine Talk Wed Oct 21 11:45 am Distinct genetic architectures of kidney function decline quantified by multi-state Markov analysis of 3.4 million serial eGFR measurements across 13 health systems Complex traitsGenetic epidemiologyGenotype-phenotype correlationsPolygenic risk score Talk Thu Oct 22 1:45 pm Rare GLP1R variants selectively attenuate weight loss with semaglutide but not tirzepatide, implicating GIP receptor agonism as a compensatory mechanism PharmacogenomicsRare variantsObesityPrecision medicine Poster Thu Oct 22 4:15 pm APOE genotype shapes the trajectory from mild cognitive impairment to dementia in a large clinical genomics cohort NeurodegenerationElectronic health recordsGenotype-phenotype correlationsPrecision medicine Poster Thu Oct 22 4:15 pm ApoB isoform-specific mechanisms of liver disease in heterozygous pLoF carriers across three population cohorts Clinical geneticsGenetic variationLarge-scale biobanks Poster Fri Oct 23 2:30 pm Plasma proteomics highlights a preclinical cardiomyopathy signature in pathogenic variant carriers without clinical diagnosis Cardiovascular systemMachine learningProteomicsRare variants Poster Fri Oct 23 2:30 pm Plasma proteomic signatures of kidney disease within APOL1 genotype strata in a population genomic screening program Clinical testingGenetic testingMetabolic disorderPrecision medicine Poster Fri Oct 23 2:30 pm CYP2C19 pharmacogenomic testing and intervention reverses excess hospitalization trend for patients taking clopidogrel Pharmacologic therapyPharmacogenomicsGenetic testingClinical genetics Poster Fri Oct 23 2:30 pm Cumulative pharmacogenomic variant burden associates with polypharmacy, treatment inefficacy, and adverse drug events PharmacogenomicsPharmacologic therapyGenetic variationGenotype-phenotype correlations |
GeneDx Stamford, Connecticut | 1 Senior Vice President of Medical Affairs · 1 Senior Health Economics & Outcomes Research Scientist · 1 Clinical Data Scientist · 1 Senior Genetic Counselor |
GeneDx sells clinical exome and genome testing, clinical interpretation, and genomic insights. It serves healthcare providers and biopharma partners.
| Booth Exhibiting at Booth 616 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Talk Wed Oct 21 11:15 am Genomic newborn screening across diverse genetic ancestries: GUARDIAN screen‑positive rates and variant findings among >19,000 newborns Genetic testingLaboratory genetics and genomicsNewborn screening Talk Wed Oct 21 1:39 pm Real-world prevalence of clinically significant RNU4-2 variants and the value of genotype-first reanalysis DiagnosticsExome/genome sequencingNeurodevelopmentalNon-coding RNA Poster Wed Oct 21 2:30 pm Budget Impact Analysis of Adopting First-Line Exome/Genome Sequencing Policy For Pediatric Commercially Insured Patients with Neurologic Disorders: A SAVES-Kids Study Policy issuesExome/genome sequencingEpilepsyIntellectual and developmental disability Talk Thu Oct 22 9:15 am Continuous clinical prioritization of copy number variants (CNVs) through dynamic feature reconstruction Rare variantsCopy number/structural variationGenetic testingMachine learning Talk Thu Oct 22 1:30 pm Factors influencing molecular diagnostic yield in a clinical autism exome sequencing cohort of over 68,000 individuals AutismExome/genome sequencingIdentification of disease genesLaboratory genetics and genomics Poster Fri Oct 23 2:30 pm Leveraging longitudinal real-world data to characterize seizure phenotypes in CSNK2A1-related disorder Characterization of disordersElectronic health recordsEpilepsyGenotype-phenotype correlations Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Real-world prevalence of clinically significant RNU4-2 variants and the value of genotype-first reanalysisDiagnosticsExome/genome sequencingNeurodevelopmentalNon-coding RNA Poster Fri Oct 23 2:30 pm AI-assisted phenotype gestalts from 188,132 individuals inform diagnostic yield and reimbursement rate Artificial intelligenceExome/genome sequencingLaboratory genetics and genomicsPhenotype |
National Center for Biotechnology Information Bethesda, Maryland | 5 PIs · 1 Staff Scientist |
Booth Exhibiting at Booth 101 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm | |
ClinVarncbi.nlm.nih.gov/clinvar Aggregates submitted human genomic-variation classifications and maps variants to HGVS reference sequences. Supports medical genetics through web, FTP and API access.
| Poster Fri Oct 23 2:30 pm Making ClinVar Search More Intuitive and Interoperable for Variant Classification Clinical geneticsClinical testingDatabasesGenetic variation …Hope to be at ASHG 2026 in Montréal!…View post on LinkedInPosted Oct 21, 2025 |
Protein Domains and Macromolecular Structures Groupncbi.nlm.nih.gov/Structure/structure_staff.html Develops CDD, MMDB, VAST and related tools for conserved-domain and macromolecular-structure data. Supports sequence/function/structure discovery through Entrez.
| Poster Fri Oct 23 2:30 pm Structure-based Ig-fold classification with IgStrand and graph neural networks enables functional insights into adhesion GPCRs and DIP/Dpr neural wiring proteins Protein structureMachine learningImmune systemComputational tools |
RefSeq eukaryotic curation Groupncbi.nlm.nih.gov/refseq Curates eukaryotic transcript and protein records using BLAST, CAGE and polyA-seq evidence. Supports genome annotation and clinical reporting with EMBL-EBI.
| Poster Fri Oct 23 2:30 pm MANE version 1.5 expands transcript standards with new non-coding genes and MANE Plus Clinical transcripts Clinical testingDiagnosticsTranscriptionGenetic testing |
Human Genetic Variation Works in population genetics and computational genetics. | Poster Wed Oct 21 2:30 pm Advancing Cross-Resource Genomic Discovery and Integrated Variant Interpretation through the NCBI Human Variation Resources Genetic variationVariant interpretationDatabasesBioinformatics |
Medical Genetics and Human Variation Works in clinical genetics. | Poster Wed Oct 21 2:30 pm MedGen-based assessment of GTR-registered indications for genetic testing BioinformaticsClinical geneticsGenetic testingLaboratory genetics and genomics |
NCBI Genome Browsers Team Works in computational genetics. | Poster Wed Oct 21 2:30 pm From Study Registration to Access: Modernizing dbGaP to Improve Genomic Data Sharing Genome-wide association studyClinical geneticsExome/genome sequencingGenetic variation |
| 1 more presenter — research group not yet identified | |
PacBio Menlo Park, California | 1 Senior Product Manager, PacBio · 1 Bioinformatics Scientist · 1 Scientist · 1 Principal I Scientist, Bioinformatics · 1 other presenter |
PacBio sells HiFi long-read sequencing systems, consumables, sample-prep kits, and analysis software to scientists and clinical researchers.
| Booth Exhibiting at Booth 605 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Poster Wed Oct 21 2:30 pm One-hour automated HMW DNA extraction from blood and saliva for HiFi sequencing Laboratory genetics and genomicsLong-read sequencingMethodologySequencing technology Poster Wed Oct 21 2:30 pm Long-read sequencing identifies and refines genome-wide methylation signals in multiple tumor types BioinformaticsCancerEpigeneticsEpigenome-wide association studies Poster Thu Oct 22 4:15 pm Kinnex-IsoSeq-WDL: Workflows for High Throughput Analysis of HiFi Kinnex Full-Length RNA Data BioinformaticsRNALong-read sequencingTranscriptome Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Towards rapid HiFi long-read whole genome sequencing for time-critical rare disease applicationsLong-read sequencingSequencing technologyExome/genome sequencingDiagnostics Poster Thu Oct 22 4:15 pm Resolution of the D4Z4 repeat responsible for facioscapulohumeral muscular dystrophy with HiFi sequencing Long-read sequencingClinical geneticsCopy number/structural variationMuscular abnormalities Poster Fri Oct 23 2:30 pm Simultaneous genetic and epigenetic profiling of the human genome at single-base resolution with PacBio HiFi sequencing MethylationDeep learningMulti-omicsChromatin |
Genomics Oxford, UK | 1 Scientist · 1 Bioinformatician · 1 Chief Scientific Officer · 1 Research Scientist · 1 other presenter |
Genomics sells AI-enabled human-genetics analytics and polygenic-risk testing to biopharma and healthcare providers.
| Booth Exhibiting at Booth 1418 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice A machine learning framework for genome-wide signal-to-gene mapping achieves state-of-the-art causal gene prioritisationMachine learningArtificial intelligenceGenomicsMulti-omics Poster Wed Oct 21 2:30 pm A Genetics-First Framework for Predicting On-Target Safety Liabilities GenomicsMachine learningPharmacogenomicsStatistical genetics Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Our Future Health: Emerging genetic insights from the world’s largest health research programmeDatabasesGenome-wide association studyPolygenic risk scorePopulation structure Poster Thu Oct 22 4:15 pm Improved multi-trait colocalisation using MTColoc Complex traitsComputational toolsExpression quantitative trait lociGenome-wide association study Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Evaluation of a novel AI agent for statistical genetics and target discoveryArtificial intelligenceStatistical genetics |
Oxford Nanopore Technologies New York, New York | 2 Principal Applications Bioinformatician · 1 Senior Bioinformatician, Commercial Applications · 1 Senior Director of Commercial Applications · 1 Associate Director, Genomic Applications Bioinformatics |
Oxford Nanopore sells real-time DNA/RNA sequencing devices, flow cells, and analysis software. Its customers include research, clinical, and biopharma teams.
| Booth Exhibiting at Booth 901 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Large population-scale WGS with Oxford Nanopore Sequencing in UK BiobankLong-read sequencingCopy number/structural variationGenomicsMethylation Poster Wed Oct 21 2:30 pm Profiling the Structure and Epigenetics of D4Z4 Arrays in FSHD Using Oxford Nanopore Sequencing BioinformaticsLong-read sequencingMethylationMulti-omics Poster Wed Oct 21 2:30 pm Hybridization-capture enrichment and full-length single-cell TCR profiling using Oxford Nanopore sequencing Immune systemLong-read sequencingSingle-cellTargeted sequencing Poster Thu Oct 22 4:15 pm Evaluation of Oxford Nanopore whole genome methylation sequencing for phenotype inference and association testing EpigeneticsLong-read sequencingEpigenome-wide association studiesMethylation Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Beyond standard variant calling: analysis tools for resolving challenging medically relevant genes using nanopore whole-genome and digital panel dataBioinformaticsComputational toolsCopy number/structural variationTargeted sequencing |
American Society of Human Genetics Bethesda, Maryland | 1 PI · 2 announced attending |
Booth Exhibiting (no floor booth listed) Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm | |
Session Fri Oct 23 9:45 am | |
Scientific Publishing and Editorial Strategy Research group. | Session Thu Oct 22 5:00 pm |
| 3 more presenters — research group not yet identified | |
Nabsys Dallas, Texas | 2 Application Scientist · 1 Software Product Manager · 1 Principal Scientist |
Nabsys provides electronic genome mapping tools for research laboratories. Its OhmX Platform combines an analyzer, consumables, and software for structural-variant analysis.
| Booth Exhibiting at Booth 501 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Poster Wed Oct 21 2:30 pm CRISPR/Cas9 Customization of Electronic Genome Mapping Repeat Expansion Assays Characterization of disordersClinical geneticsGenetic mappingGenome editing/CRISPR Session Wed Oct 21 2:45 pm Poster Thu Oct 22 4:15 pm CRISPR-Assisted Electronic Genome Mapping for Robertsonian Translocations and FSHD Copy number/structural variationGenetic variationRare variantsVariant calling Poster Thu Oct 22 4:15 pm Genome-Scale Mapping of Human LINE-1 ORF2p Endonuclease Activity CancerGenetic mappingGenomics Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice CRISPR/Cas9 Optimization by Electronic Genome MappingGene therapyGenetic mappingGenome editing/CRISPRPrecision medicine |
Agilent Technologies Santa Clara, California | 2 R&D Scientist · 1 Product Marketing Director · 1 Product Manager |
Agilent sells instruments, software, and consumables to laboratories. It also provides genomics assays, sample QC, and workflow services for research and diagnostics.
| Booth Exhibiting at Booth 1017 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Poster Wed Oct 21 2:30 pm Low-input gDNA integrity assessment for FFPE specimens using a multi-tissue sample set GenomicsLarge-scale biobanksLaboratory genetics and genomics Poster Wed Oct 21 2:30 pm Poster Wed Oct 21 2:30 pm A Scalable PCR- Free WGS Workflow Enabling Accurate Library Quantification and Improved Coverage Across Sequencing Platforms Variant callingSNP analysis/discoveryGenomicsExome/genome sequencing Poster Wed Oct 21 2:30 pm Next Generation Multiplex Hybrid Capture and Sequencing Enabled by Workflow Integration and Enhanced Library Complexity Sequencing technologyTargeted sequencingExome/genome sequencing |
Element Biosciences San Diego, California | 1 Scientist I · 1 Vice President Research And Development · 1 Sr Director of Strategic Marketing · 1 other presenter |
Element Biosciences sells sequencing instruments, reagents, and multiomics workflows to research, pharmaceutical, biotechnology, and clinical laboratories.
| Booth Exhibiting at Booth 1108 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Poster Wed Oct 21 2:30 pm Improved sequencing of difficult regions reduces variant calling errors Sequencing technologyMutation detectionRare variantsExome/genome sequencing Poster Thu Oct 22 4:15 pm Targeted in situ SNP genotyping enables single-cell identity deconvolution for scalable human cell village studies SNP analysis/discoveryMulti-omicsTargeted sequencing Poster Fri Oct 23 2:30 pm Spatially Resolved Mapping of Intratumor Clonal Architecture in Human Tumors Using Direct In-Sample Sequencing CancerSpatial transcriptomicsGenomics Poster Fri Oct 23 2:30 pm Time-series single-cell multiomics captures the transcriptional and morphological consequences of acutely depleting the neurodevelopmental gene SETD5 in hiPSCs AutismChromatinEpigeneticsGene regulation |
Thermo Fisher Scientific Carlsbad, California | 1 Senior Manager, Bioinformatics Microarray · 1 Sr. Staff Scientist · 1 Senior Product Marketing Manager · 1 Scientist |
Thermo Fisher sells genomic and proteomic instruments, assays, and reagents. It serves research labs, clinical laboratories, and biopharma customers.
| Booth Exhibiting at Booth 1001 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Poster Wed Oct 21 2:30 pm HLA typing from modern microarray data Computational toolsGenetic testingImmune systemMicroarrays Poster Wed Oct 21 2:30 pm Array-based detection of extended MHC mismatch blocks in classically HLA-matched transplant donor-recipient pairs Bone marrow transplantationGenomic structureHaplotypeMicroarrays Poster Thu Oct 22 4:15 pm High-throughput plasma and tissue proteomics enables detection of lung cancer-associated protein signatures CancerProteomicsTranslational studies and preclinical trialsPrecision medicine Poster Fri Oct 23 2:30 pm Enhanced Detection of Mosaic Copy Number Neutral LOH Using the CytoScan™ Array Family Copy number/structural variationCancer cytogeneticsClinical testingDiagnostics |
University of California, Santa Cruz Santa Cruz, California | 2 PIs · 1 PhD Student |
Booth Exhibiting at Booth 320 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm | |
Cornejo Labourgenomes.sites.ucsc.edu Studies genomes from humans, microbiomes, malarial parasites and plants using long-read sequencing and hybrid capture. Focuses on host-microbe evolution, disease resistance and HLA haplotyping.
| Poster Wed Oct 21 2:30 pm Ancestry analysis of International Histocompatibility Working Group cell lines: beyond geographic labels Population geneticsPopulation structureImmune system |
Genomics Instituteucscgenomics.soe.ucsc.edu Builds genomic data platforms and tools including Dockstore, BioData Catalyst, AnVIL and Human Cell Atlas access. Applies genomics to human health and species conservation.
| Poster Wed Oct 21 2:30 pm Varaico update collects genetic variants from full-text literature and supplementary data (www.varaico.com) Variant interpretationGenetic testingExome/genome sequencingDiagnostics |
Haussler-Salama Labstemcellgenomics.ucsc.edu/people/members-of-the-lab Uses pluripotent stem cells, cerebral cortex organoids, CRISPR and single-cell RNA-seq. Studies primate brain evolution, neurodevelopmental disease and pediatric glioma.
| Poster Fri Oct 23 2:30 pm Resolving the H9 Genome: A T2T Haplotype-Phased Assembly Unlocks Allele-Specific Insights GenomicsStem cellSequencing technologyPrecision medicine |
Miga Labmigalab.com Produces nanopore long-read data for telomere-to-telomere chromosome assemblies and epigenetic maps. Studies satellite DNA variation in human centromeres and disease.
| Talk Thu Oct 22 9:00 am The Human Pangenome Project:
A new foundation for human genomics Clinical geneticsEthical, legal, and social implicationsEvolutionary geneticsGenomics |
23andMe Palo Alto, California | 1 Senior Scientist · 1 Vice President of Genomic Health and Chief Medical Officer · 1 Applied Scientist |
23andMe sells consumer genetic testing, ancestry reports, and health memberships. It provides genomic data, research services, and participant recruitment to biopharma partners.
| Booth Exhibiting at Booth 400 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Poster Thu Oct 22 4:15 pm Genome-wide burden testing of imputed rare variants recovers sequencing-based signals Rare variantsComplex traits Poster Thu Oct 22 4:15 pm Validation of self-reported phenotypes in a real world genotyped cohort Electronic health recordsPhenotypeClinical historyDatabases Talk Fri Oct 23 1:45 pm One in ten individuals receives a medically actionable result through direct-to-consumer genetic testing: Insights from 6 million research participants EpidemiologyGenetic testingLarge-scale biobanksPrecision medicine |
Centogene Rostock, Germany | 1 Senior Product Manager · 1 Vice President Medical Genetics · 1 Chief Medical and Genomic Officer |
CENTOGENE sells clinical genetic diagnostics and genomic knowledge software to physicians, patients, and pharma partners.
| Booth Exhibiting at Booth 1301 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Poster Wed Oct 21 2:30 pm Short-read genome sequencing as a one-test approach in reproductive genetic carrier screening for the detection of complex gene variants. Exome/genome sequencingReproductive geneticsVariant callingMendelian disorder Poster Wed Oct 21 2:30 pm Genome sequencing as a diagnostic tool for hereditary spinocerebellar ataxias caused by CAG repeat expansions AtaxiaDiagnosticsExome/genome sequencingLaboratory genetics and genomics Poster Thu Oct 22 4:15 pm Evaluation of Ultima Genomics whole-genome sequencing for rare disease diagnostics in challenging variant contexts BioinformaticsDiagnosticsSequencing technology |
seqWell Beverly, Massachusetts | 1 Scientist · 1 Senior Scientist · 1 Team Lead |
seqWell sells NGS library-prep kits, multiplexing kits, and transposase reagents for academic, institutional, and genomics research labs.
| Booth Exhibiting at Booth 1408 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Poster Fri Oct 23 2:30 pm Directional Tagmentation Improves NGS Library Quality and Reduces Chimera Formation in FFPE DNA Sequencing technologyMethodologyGenomicsExome/genome sequencing Poster Fri Oct 23 2:30 pm An auto-normalizing directional tagmentation method for robust NGS library preparation GenomicsTargeted sequencingLaboratory genetics and genomicsPopulation genetics Poster Fri Oct 23 2:30 pm Highly multiplexed auto-normalized library prep on the Oxford Nanopore platform using TnX transposase Exome/genome sequencingGenomicsInfectious diseaseIdentification of disease genes |
MicroPure Genomics San Diego, California | 1 CEO & Co-Founder · 1 Head of Science · 1 CRO/COO |
MicroPure Genomics develops µPrep, a beadless sample-preparation platform for DNA and RNA testing across ultra-long to short-read sequencing workflows.
| Booth Exhibiting at Booth 1029 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Poster Thu Oct 22 4:15 pm A Flow Physics Approach to Integrated Shearing and Size Selection for Long-Read Human Genomic Sample Preparation GenomicsLaboratory genetics and genomicsLong-read sequencingMassively parallel sequencing Poster Fri Oct 23 2:30 pm Electro-Hydrodynamic Purification (EHP)-enabled continuous-flow surface adherence-free genomic sample preparation for long-read sequencing GenomicsLaboratory genetics and genomicsLong-read sequencingMethodology |
Ultima Genomics Fremont, California | 1 Senior Staff NGS Application Manager · 1 Senior Bioinformatics Scientist · 1 Vice President, Germline Genomics & Distinguished Scientific Fellow |
Ultima Genomics sells sequencing platforms, library-prep workflows, and bioinformatics for high-throughput omics research and healthcare.
| Booth Exhibiting at Booth 1009 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Poster Thu Oct 22 4:15 pm Hybrid deep short-read and shallow long-read whole-genome sequencing improves small and structural variant detection for demanding clinical applications Clinical testingExome/genome sequencingVariant calling Poster Thu Oct 22 4:15 pm Enhanced germline whole-genome sequencing accuracy and coverage uniformity with isothermal clonal bead amplification on a flow-based sequencing-by-synthesis platform Exome/genome sequencingClinical testingVariant calling |
Coriell Institute For Medical Research Camden, New Jersey | 1 PI |
Booth Exhibiting at Booth 310 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm | |
Scheinfeldt Labcoriell.org/1/Research/The-Scheinfeldt-Lab/The-Scheinfeldt-Lab Uses computational models on 1000 Genomes whole-genome sequencing, gene-expression and biobanking data. Supports human evolutionary and pharmacogenomic research through Coriell repositories.
| Poster Wed Oct 21 2:30 pm Happy 20th Anniversary to the NHGRI Sample Repository for Human Genetic Research Large-scale biobanksGenomicsPopulation geneticsStem cell Session Thu Oct 22 1:30 pm Poster Thu Oct 22 4:15 pm The NINDS Human Genetics Resource Center: distribution trends and sample usage in research Complex traitsLarge-scale biobanksNeurodegenerationNeurogenetics |
biomodal Saffron Walden, UK | 1 Regional Head of Sales, North America · 1 US Territory Manager, Northeast |
biomodal sells multiomic sequencing workflows and analysis software to life scientists and clinical developers.
| Booth Exhibiting at Booth 1409 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Poster Wed Oct 21 2:30 pm 6-base differential methylation analysis reveals regulatory biology masked by conventional epigenetic profiling EpigeneticsGene regulationMethylationMulti-omics Poster Fri Oct 23 2:30 pm 6-base genome sequencing reveals functional genomic readouts in otherwise intractable clinical samples CancerCell-free DNAEpigeneticsMethylation |
Broad Clinical Labs Burlington, Vermont | 1 Director of Clinical Product Development and Strategy · 1 Principal Product Development Scientist |
Broad Clinical Labs provides integrated multi-omic data generation and advanced analysis services for research and clinical applications.
| Booth Exhibiting at Booth 927 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Poster Fri Oct 23 2:30 pm Building a production-ready framework for routine same-day ultra-rapid genome sequencing Sequencing technologyClinical geneticsExome/genome sequencingDiagnostics Poster Fri Oct 23 2:30 pm A Population-Scale Targeted Methylation Sequencing Platform for Human Disease and Exposure Biology Epigenome-wide association studiesEpigeneticsPopulation genetics |
EpiCypher Durham, North Carolina | 1 Product Manager · 1 Associate Director of Product Development |
EpiCypher sells chromatin-mapping assays, designer nucleosomes, and bioinformatics platforms to academic, biotech, and pharmaceutical researchers.
| Booth Exhibiting at Booth 416 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Poster Wed Oct 21 2:30 pm Long-read multiomic profiling of chromatin accessibility in dark and repetitive regions of the genome EpigeneticsChromatinGene regulationLong-read sequencing Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice FFPE-CUT&Tag transcription profiling in patient biopsies reveals novel druggable pathways in lymphomaSequencing technologyRegulation of transcriptionChromatinCancer |
Fulcrum Genomics Somerville, Massachusetts | 1 Founding Partner · 1 Principal Bioinformatics Scientist |
Bioinformatics consulting, custom tools, pipelines, and systems for biotech, pharma, life-science, and diagnostic teams.
| Booth Exhibiting at Booth 1224 Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm Poster Wed Oct 21 2:30 pm fgumi and bwa-mem3: open-source tools for UMI-aware methylation sequencing BioinformaticsMethylationComputational toolsEpigenetics Poster Wed Oct 21 2:30 pm Sequence context shapes variant-calling accuracy: a comparison of two whole-genome sequencing chemistries in a Southeast Asian cohort Mutation detectionMassively parallel sequencingSequencing technologyVariant calling |
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