ASHG 2026 · Hospital & health system

Massachusetts General Hospital at ASHG 2026

Name: ASHG 2026 Annual Meeting
Start: 2026-10-20
End: 2026-10-24
Location: Montréal

Boston, Massachusetts

Massachusetts General Hospital at ASHG 2026 in Montréal: 33 presentations (24 posters, 5 platform talks, 2 featured symposia); 28 research groups.

presentations on the program

research groups identified

sessions invited to or moderated

Reviewers’ Choice abstracts

Explore everyone at ASHG 2026 →

Organization	ASHG 2026 Attendance
Massachusetts General Hospital Boston, Massachusetts	16 Postdocs · 9 PIs · 3 Staff Scientists · 2 Faculty
Talkowski Laboratorymassgeneral.org/research/support/mgh-research-scholars/scholar-profiles/talkowski-mgh-scholar-profile Wet + dry lab~29 people Runs whole-genome sequencing, RNA-seq, CRISPR/Cas9 and iPSC studies. Applies them to autism, rare disease and prenatal diagnostics. 79 papers since 2024 › Genome Sequencing for Diagnosing Rare Diseases New England Journal of Medicine, 2024 Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes Nature, 2024 A harmonized public resource of deeply sequenced diverse human genomes Genome Research, 2024 Source: OpenAlex author A5060291693 Funded by National Institutes of Health, Simons Foundation for Autism Research +6 more › National Institutes of Health · active “Mike’s laboratory is funded by the National Institutes of Health” Simons Foundation for Autism Research · active “the Simons Foundation for Autism Research” Nancy Lurie Marks Family Foundation · active “the Nancy Lurie Marks Family Foundation” +5 more on the lab page Source: lab pages 14 platforms and techniques › Runs Whole Genome Sequencing, RNAseq, Whole Exome Sequencing, Targeted Capture Sequencing (CapSeq), ChIPseq, miRNAseq, CRISPR/Cas9 Genome Editing, Illumina HiSeq 2500 Techniques Genome-wide structural variation detection, CRISPR-engineered human iPSC, Transcriptional and epigenetic profiling, Synaptic phenotyping, Long-read sequencing analysis, Assembly-based functional genomics Source: lab pages Currently hiring › “We are always willing to consider highly motivated young scientists interested in postdoctoral fellowships either as molecular geneticists or computational biologists” Source: lab positions page	Talk Thu Oct 22 11:00 am From human to mouse and back: Leveraging CNVs, GWAS, and in vivo experiments to uncover non-coding SHOX enhancers Gene Regulatory Networks Across Development, Evolution, and Disease Collaborators: University of Lausanne, University of Geneva +2 more Copy number/structural variationGene regulationLarge-scale biobanksModel organisms Poster Thu Oct 22 4:15 pm Spermatogonial selection reshapes effective mutation rates in human sperm Evolutionary and Population Genetics Collaborators: Wellcome Sanger Institute, Cambridge IVF Somatic variantsNatural selectionPopulation geneticsReproductive genetics Poster Thu Oct 22 4:15 pm Lifelong clinical, developmental, and pleiotropic impacts of autism-associated genes Complex Traits and Polygenic Disorders Collaborators: Broad Institute, Emory University +5 more AutismEpilepsyGenetic epidemiologyNeurodevelopmental Talk Fri Oct 23 11:00 am Brain imaging endophenotypes unlock novel gene discovery in isolated dystonia New Tricks for Tackling Unsolved Neurodevelopmental and Neuromuscular Disorders Collaborators: Broad Institute, Massachusetts Eye and Ear Infirmary Identification of disease genesNeurogeneticsMendelian disorderRare variants Poster Fri Oct 23 2:30 pm Cell-free DNA dynamics across pregnancy: Longitudinal exome sequencing reveals trimester-specific determinants and implications for noninvasive prenatal testing Prenatal, Perinatal, Reproductive, and Developmental Genetics Collaborators: Broad Institute, Boston Children's Hospital +2 more Cell-free DNADevelopmentDiagnosticsExome/genome sequencing
Ge Labsites.google.com/view/the-ge-lab/home Dry lab~12 people Develops statistical and machine-learning methods for genomic, brain MRI, behavioral and electronic health-record data. Studies complex traits, brain disorders and individualized disease-risk prediction. 66 papers since 2024 › Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations Nature Medicine, 2024 Fine-mapping across diverse ancestries drives the discovery of putative causal variants underlying human complex traits and diseases Nature Genetics, 2024 Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression Nature Communications, 2024 Source: OpenAlex author A5032711494 Funded by NHGRI, NIMH +10 more › NHGRI, R01: Computational and statistical methods for genetic association studies of disease course over time · 2025-2029 The NIH's standard multi-year research project grant. “2025-2029 NHGRI R01: Computational and statistical methods for genetic association studies of disease course over time (Co-I)” NIMH, R01: PsycheMERGE: Advancing precision psychiatry · 2024-2029 The NIH's standard multi-year research project grant. “2024-2029 NIMH R01: PsycheMERGE: Advancing precision psychiatry (Co-I)” NIMH, R01: Genetic and neural underpinnings of ADHD and associated cognitive systems · 2023-2028 The NIH's standard multi-year research project grant. “2023-2028 NIMH R01: Leveraging computational strategies to disentangle the genetic and neural underpinnings of ADHD and its associated cognitive systems (PI)” +9 more on the lab page Source: lab pages 12 platforms and techniques › Analyzes structural MRI, resting-state fMRI, task-evoked fMRI, electronic health records, transcriptomic data, whole-exome sequencing Techniques genomic prediction, statistical genetics, neuroimaging genetics, machine learning, polygenic risk scores, fine-mapping Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Data-driven LD reference learning improves polygenic prediction across diverse ancestries Statistical Genetics and Genetic Epidemiology Linkage disequilibriumMethodologyPolygenic risk scorePopulation structure Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Characterizing the Uncertainty, Misclassification and Inconsistency of Polygenic Prediction Statistical Genetics and Genetic Epidemiology Complex traitsPolygenic risk scoreStatistical genetics
Martin Labarmartinlab.com Dry lab~14 people Analyzes GWAS, low-coverage sequencing, biobank and 1000 Genomes data. Uses them for polygenic risk prediction, psychiatric genetics and population history. 61 papers since 2024 › Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes Nature, 2024 Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects medRxiv, 2024 A harmonized public resource of deeply sequenced diverse human genomes Genome Research, 2024 Source: OpenAlex author A5055040294 10 platforms and techniques › Analyzes GWAS, Low-coverage sequencing, Genome sequencing, Transcriptome sequencing Techniques Polygenic risk scores, Population genetics, Statistical genetics, QC, PCA, phasing and imputation, Local ancestry analysis, Genetic risk prediction Source: lab pages No funding stated · No openings posted	Poster Wed Oct 21 2:30 pm Proteomic Signatures Capture Environmental Exposures Across Diverse Populations Omics Technologies Collaborators: Broad Institute, Stanford University Multi-omicsProteomics Poster Wed Oct 21 2:30 pm Clustering GWAS effect sizes across IBD surgical subtypes identifies variants influencing risk and severity Complex Traits and Polygenic Disorders Collaborators: University of Helsinki, Broad Institute Gastrointestinal systemGenome-wide association studyStatistical genetics
Cardiovascular Imaging Research Centercirc.mgh.harvard.edu Dry lab~45 people Uses cardiac CT, MRI, PET and chest X-ray data with machine learning. Studies atherosclerosis, cancer, HIV and MGB Biobank imaging phenotypes. 51 papers since 2024 › Thymic health consequences in adults Nature, 2026 Endovascular Thrombectomy for Large Ischemic Stroke Across Ischemic Injury and Penumbra Profiles JAMA, 2024 Endovascular Thrombectomy Treatment Effect in Direct vs Transferred Patients With Large Ischemic Strokes JAMA Neurology, 2024 Source: OpenAlex author A5091841617 Funded by National Institutes of Health, Harvard Medical School +1 more › National Institutes of Health · active “has been awarded more than 15 NIH grants” Harvard Medical School · active “research is supported by grants from Harvard Medical School” American Heart Association · active “research is supported by grants from Harvard Medical School, the American Heart Association” Source: lab pages 15 platforms and techniques › Works with Cardiac CT, Cardiac MRI, Ultrasound, Coronary CT angiography, FDG-PET, Chest X-ray, Retinal fundoscopy, Dual-energy absorptiometry Techniques Machine learning, Deep-learning algorithms, Image-derived phenotyping, Genome-wide association studies, Radiomics, Statistical and epidemiological methods, Large language models Source: lab pages No openings posted	Poster Fri Oct 23 2:30 pm A body composition-based aging clock reveals novel genetic variants associated with biological aging Artificial Intelligence and Machine Learning Collaborators: University Medical Center Freiburg Machine learningMetabolic disorderGenome-wide association studyLarge-scale biobanks
Center for Bioethicsbioethics.hms.harvard.edu ~186 people Conducts normative and empirical research on clinical care, research and public policy. Works with Harvard Medical School, Harvard University and affiliated teaching hospitals. 2 platforms and techniques › Techniques normative research, empirical research Source: lab pages Currently hiring › “The Center for Bioethics at Harvard Medical School is hiring for the following positions:” Source: lab positions page No funding stated	Poster Thu Oct 22 4:15 pm Communicating Genetic Influence: Lay Perceptions of Validity and Causality in Polygenic Score Interpretation Complex Traits and Polygenic Disorders Polygenic risk scoreGenome-wide association studyEducationPopulation genetics
Center for Genomic Medicinecgm.massgeneral.org Wet + dry lab~46 people Studies human genetic variation, biobank/EHR and transcriptomic data with computational and experimental genomics. Uses findings for disease mechanisms, diagnosis and targeted treatments. 79 papers since 2024 › Genome Sequencing for Diagnosing Rare Diseases New England Journal of Medicine, 2024 Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes Nature, 2024 A harmonized public resource of deeply sequenced diverse human genomes Genome Research, 2024 Source: OpenAlex author A5060291693 Funded by National Human Genome Research Institute (NHGRI) › National Human Genome Research Institute (NHGRI), Mass General Brigham Healthcare Training Program in Precision & Genomic Medicine (T32) · active “supported by the National Human Genome Research Institute (NHGRI).” Source: lab pages 10 platforms and techniques › Analyzes genome sequencing, transcriptomics Techniques statistical genetics, high-throughput genome-wide association studies, transcriptomics, small molecule screening, patient-derived stem cell models, adeno-associated viral vectors, mRNA splicing, clinical phenotyping Source: lab pages Currently hiring › “We are hiring! We are inviting applications for full-time CGM faculty” Source: lab positions page	Poster Fri Oct 23 2:30 pm Multi-ancestry Meta-analysis of Cannabis Use Identifies Shared Genetic Loci with Sleep and Circadian Rhythms Complex Traits and Polygenic Disorders Collaborators: Broad Institute, University of Helsinki +3 more Genetic variationGenomicsNervous systemBehavior
Center for Precision Psychiatryresearch.massgeneralbrigham.org/en/institutes-centers/department-of-psychiatry/center-for-precision-psychiatry Dry lab~49 people Integrates genomics, neuroimaging, electronic health records and biobank data for psychiatric risk prediction and treatment optimization. Focuses on suicide prevention and precision mental-health care. 150 papers since 2024 › Genomics yields biological and phenotypic insights into bipolar disorder Nature, 2025 Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations Nature Medicine, 2024 Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder Nature Genetics, 2024 Source: OpenAlex author A5044998046 Funded by The Tommy Fuss Fund, NIMH +3 more › The Tommy Fuss Fund · active “supported in part by a grant from The Tommy Fuss Fund” NIMH, K01 · active “He is the PI of an NIMH K01 that develops machine learning and precision treatment models for emergency psychiatry.” NCI, R01 · active The NIH's standard multi-year research project grant. “He also serves as a co-I of an NIMH-funded RF1 and an NCI-funded R01” +2 more on the lab page Source: lab pages 14 platforms and techniques › Analyzes electronic health records (EHRs), genomic data, fMRI, passive mobile sensing, smartphones and biosensors, clinical notes from EHRs Techniques machine learning, deep learning, psychometrics, causal inference, computer vision, real-time fMRI neurofeedback, ecological momentary assessment, NLP Source: lab pages No openings posted	Poster Thu Oct 22 4:15 pm Disease Prevalence Explains Apparent Heterogeneity in Polygenic Score Effect Sizes Statistical Genetics and Genetic Epidemiology Polygenic risk scoreGene environment interaction
Daly Labatgu.mgh.harvard.edu Dry lab Computationally studies human-disease genetics using integrative genomics, GWAS, whole-exome sequencing and proteomic data. Analyzes FinnGen and Million Veteran cohorts for therapeutic target prioritisation. 93 papers since 2024 › Proteomic aging clock predicts mortality and risk of common age-related diseases in diverse populations Nature Medicine, 2024 Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes Nature, 2024 Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects medRxiv, 2024 Source: OpenAlex author A5107596541 9 platforms and techniques › Analyzes GWAS, whole-exome sequencing, proteomic data Techniques integrative genomics, linkage and association analysis, polygenic risk scores, gene-by-environment interactions, causal variant fine-mapping, human pedigrees Source: lab pages No funding stated · No openings posted	Symposium Wed Oct 21 8:20 am Advancing gene discovery and therapeutic translation through population-scale genomics in global biobanks Beyond GWAS: Translating Human Genetic into Therapeutic Targets and Clinical Development
Fahed Labfahedlab.com/team Dry lab~47 people 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. 49 papers since 2024 › AHA PREVENT Equations and Cardiovascular Disease Risk in Diverse Health Care Populations Journal of the American College of Cardiology, 2025 Association of genetic risk, lifestyle, and their interaction with obesity and obesity-related morbidities Cell Metabolism, 2024 Multivariate genomic analysis of 5 million people elucidates the genetic architecture of shared components of the metabolic syndrome Nature Genetics, 2024 Source: OpenAlex author A5072824736 Funded by NHLBI, NIH/NHLBI +2 more › NHLBI, PROACT trials · active “Our team leads the NHLBI-funded PROACT trials” NIH/NHLBI, K99/R00 Pathway to Independence Award · active “funded by an NIH/NHLBI K99/R00 Pathway to Independence Award” NHLBI, K01 Career Development Award · active “currently supported by an NHLBI K01 Career Development Award” +1 more on the lab page Source: lab pages 15 platforms and techniques › Analyzes Genomic data from biobanks, Coronary CT plaque imaging, Coronary CT angiography, Electronic health records, Coronary angiography data, Whole-genome sequencing, UK Biobank Techniques Human genetics, Deep phenotyping, Polygenic risk scores, Machine learning, Statistical genetics, Genomic medicine implementation, Large language models, Clinical trials Source: lab pages Currently hiring › “We are always looking for talented individuals passionate about ending heart disease to join our team.” Source: lab positions page	Poster Thu Oct 22 4:15 pm Genetic risk of disease progression in cardiovascular-kidney-metabolic syndrome Complex Traits and Polygenic Disorders Collaborators: Broad Institute, Chinese Academy of Sciences Cardiovascular systemComplex diseasesGenetic epidemiologyPolygenic risk score
Gao Labdgaolab.org Dry lab~3 people Develops bioinformatics algorithms for bulk and single-cell transcriptomics and epigenomics, including scRNA and RNASeq. Applies them to neurodegeneration and computational treatment development. 19 papers since 2024 › AMH protects the ovary from doxorubicin by regulating cell fate and the response to DNA damage Proceedings of the National Academy of Sciences, 2025 Splice modulators target PMS1 to reduce somatic expansion of the Huntington’s disease-associated CAG repeat Nature Communications, 2024 Source: OpenAlex author A5014242703 Funded by NIH, NIH +1 more › NIH, R00 · active “Functional Characterization of Mobile Element Insertions in Human Brain (NIH R00 Funded)” NIH, R01 · active The NIH's standard multi-year research project grant. “Landscape of Poison Exon in Human Diseases (NIH R01 Funded)” CCXDP · active “Treatment Development for X-linked Dystonia-Parkinsonism (CCXDP Funded)” Source: lab pages 8 platforms and techniques › Analyzes scRNA, RNASeq, Spatial transcriptional measurements Techniques Deep learning, CRISPR-based genome engineering, iPSC-derived neuronal culture, Cerebral organoids, Anti-sense oligonucleotides (ASOs) Source: lab pages Currently hiring › “#### Current Openings” Source: lab positions page	Talk Thu Oct 22 11:30 am Short- and long-read RNA sequencing revealed RNA fusions contributing to amyotrophic lateral sclerosis Cross-Disease Insights into Neuropsychiatric and Neurodegenerative Disorders Collaborators: Broad Institute Alternative splicingNeurodegenerationRNASplicing mechanisms inNamed in a LinkedIn post about ASHG 2026
Honigberg Labhonigberglab.mgh.harvard.edu/team Wet + dry lab~30 people Works with UK Biobank, Women’s Health Initiative and nuMoM2b data using human genetics, multi-omics and imaging. Studies cardiovascular prevention, CHIP and women’s risk factors. 115 papers since 2024 › Hypertension in Pregnancy and Postpartum: Current Standards and Opportunities to Improve Care Circulation, 2025 Colchicine prevents accelerated atherosclerosis in TET2 -mutant clonal haematopoiesis European Heart Journal, 2024 Clonal Hematopoiesis and Incident Heart Failure With Preserved Ejection Fraction JAMA Network Open, 2024 Source: OpenAlex author A5014780203 Funded by National Institutes of Health, American Heart Association +5 more › National Institutes of Health · active “His research program is supported by the National Institutes of Health” American Heart Association · active “His research program is supported by the National Institutes of Health, American Heart Association, PCORI” PCORI, Pressure Check Study · active “the PCORI Pressure Check study” +4 more on the lab page Source: lab pages 5 platforms and techniques › Techniques clinical and genetic epidemiology, deep learning, statistical genetics, polygenic modeling, human venous endothelial cell transcriptional profiling Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm Resolving platform-driven non-replication in population proteomics through machine learning-based cross-platform imputation Omics Technologies Collaborators: University of California, Berkeley, Hanoi School Of Public Health +13 more EpidemiologyMachine learningProteomicsTranslational studies and preclinical trials
Karczewski Labklab.is Dry lab~13 people 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. 52 papers since 2024 › Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes Nature, 2024 Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects medRxiv, 2024 A harmonized public resource of deeply sequenced diverse human genomes Genome Research, 2024 Source: OpenAlex author A5106691485 Funded by Harvard Society of Fellows, NIH › Harvard Society of Fellows, Junior Fellow · active “Mohamed El-Brolosy is a junior fellow of the Harvard Society of Fellows” NIH, NIH-Cambridge scholar “Henry obtained his PhD from the University of Cambridge as an NIH-Cambridge scholar” Source: lab pages 12 platforms and techniques › Analyzes Exome data, Genome data, gnomAD, Genebass, LOFTEE, Hail Techniques Rare variant association analysis, Directional gene perturbation, Machine learning, Deep learning, Multimodal disease prediction, Sequence-to-function modeling Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Scallion: capturing LoF-like missense variation to expand rare variant discovery Statistical Genetics and Genetic Epidemiology Artificial intelligenceBioinformaticsRare variantsSNP analysis/discovery
Natarajan Labnatarajanlab.mgh.harvard.edu/current Dry lab~68 people Analyzes germline and somatic genetic variation with whole-genome sequencing, imaging and MGH Biobank data. Uses these data for cardiovascular disease prevention and clinical risk prediction. 273 papers since 2024 › Association of genetic risk, lifestyle, and their interaction with obesity and obesity-related morbidities Cell Metabolism, 2024 Lipoprotein(a), C-Reactive Protein, and Cardiovascular Risk in Primary and Secondary Prevention Populations JAMA Cardiology, 2024 Clonal Hematopoiesis of Indeterminate Potential With Loss of Tet2 Enhances Risk for Atrial Fibrillation Through Nlrp3 Inflammasome Activation Circulation, 2024 Source: OpenAlex author A5047884631 Funded by John S. LaDue Memorial Fellowship in Cardiovascular Medicine, MGH Primary Care Innovation Fund +8 more › John S. LaDue Memorial Fellowship in Cardiovascular Medicine · active “supported by the John S. LaDue Memorial Fellowship in Cardiovascular Medicine” MGH Primary Care Innovation Fund, Novel Screening Technologies grant · active “the Novel Screening Technologies grant from the MGH Primary Care Innovation Fund (PCIF)” National Human Genome Research Institute, K08HG012811 · active “supported by K08HG012811 from the National Human Genome Research Institute” +7 more on the lab page Source: lab pages 14 platforms and techniques › Analyzes whole-genome sequencing, retinal imaging, electronic health records, wearable devices, MGH Biobank, aptamer- and antibody-based proteomics Techniques genome-wide association studies, polygenic risk scores, Mendelian randomization, genetic causal inference, multi-omics data analysis, electronic health record phenotyping, phenotyping algorithms, digital twins Source: lab pages No openings posted	Poster Fri Oct 23 2:30 pm Population structure in a U.S. South Asian cohort: Preliminary findings from the OurHealth study Evolutionary and Population Genetics Collaborators: Broad Institute, Case Western Reserve University Cardiovascular systemDiabetesPopulation geneticsPopulation structure
Pinello Labpinellolab.org Wet + dry lab Integrates omics data with CRISPR/Cas9 genome editing, single-cell sequencing and scATAC-seq. Studies gene regulation and genetic or epigenetic variation in human traits and diseases. 16 papers since 2024 › Systematic benchmarking of computational methods to identify spatially variable genes Genome biology, 2025 Deciphering the impact of genomic variation on function Nature, 2024 Gene editing without ex vivo culture evades genotoxicity in human hematopoietic stem cells Cell stem cell, 2024 Source: OpenAlex author A5078228499 Funded by Mass General Research Institute › Mass General Research Institute, MGH Research Scholar · 2024-2029 “MGH Research Scholar 2024-2029” Source: lab pages 12 platforms and techniques › Works with CRISPR/Cas9 genome editing, single-cell sequencing, scATAC-seq, DNA methylation, deep sequencing, histone modification data Techniques multi-omics data integration, CRISPR/Cas9 genome editing, single-cell trajectory inference, ML/AI, chromatin and regulatory-element analysis, CRISPR off-target analysis Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm Chorus: From computational to conversational genomics for variant interpretation with sequence-to-function oracles Artificial Intelligence and Machine Learning Collaborators: Broad Institute, Vavilov Institute of General Genetics +1 more Gene regulationVariant interpretationMachine learningArtificial intelligence
Prokopenko Laboratoryresearch.massgeneralbrigham.org/en/institutes-centers/neuroscience-institute/department-of-neurology/genetics-and-aging-research-unit/prokopenko-lab Dry lab~5 people Develops statistical and computational methods for Alzheimer’s disease genetics using whole-genome sequencing, whole-exome sequencing and RNA-seq. Studies biological pathways, early detection and gene-environment effects. 40 papers since 2024 › Identification of 16 novel Alzheimer's disease loci using multi‐ancestry meta‐analyses Alzheimer s & Dementia, 2025 Single-cell multiregion dissection of Alzheimer’s disease Nature, 2024 Chronic Obstructive Pulmonary Disease Exacerbations Increase the Risk of Subsequent Cardiovascular Events: A Longitudinal Analysis of the COPDGene Study Journal of the American Heart Association, 2024 Source: OpenAlex author A5019016063 Funded by NIH, Private foundations › NIH · active “His work is supported by NIH and private foundations.” Private foundations · active “His work is supported by NIH and private foundations.” Source: lab pages 11 platforms and techniques › Analyzes Whole-genome sequencing, Whole-exome sequencing, RNA-seq, Metabolomics, Proteomics Techniques Statistical genetics, Rare variant studies, GWAS and SMR, Transcriptome-wide association studies, Machine-learning polyomic risk modeling, Gene-environment interaction studies Source: lab pages No openings posted	Poster Thu Oct 22 4:15 pm Whole exome sequencing of RADCO cognitive superagers identifies rare variants linked to preserved late-life cognition Statistical Genetics and Genetic Epidemiology Collaborators: Boston University, University of Bonn +2 more Alzheimer’s diseaseExome/genome sequencingEvolutionary geneticsIdentification of disease genes
Robinson Labrobinsonlab.org Dry lab~12 people Studies human behavioral and cognitive variation using GWAS and exome data. Develops quantitative approaches to characterize polygenic risk in neuropsychiatric disease. 36 papers since 2024 › Mapping the genetic landscape across 14 psychiatric disorders Nature, 2025 Transcriptome-wide analysis of differential expression in perturbation atlases Nature Genetics, 2025 Polygenic and developmental profiles of autism differ by age at diagnosis Nature, 2025 Source: OpenAlex author A5002303468 Funded by F31, Autism Science Foundation › F31 · March 2023 “Congratulations to [name] for receiving his F31!” Autism Science Foundation, postdoctoral fellowship · March 2023 “[name] for receiving The Autism Science Foundation postdoctoral fellowship” Source: lab pages 6 platforms and techniques › Analyzes GWAS, Exome data Techniques Genetic association, GWAS–exome data integration, Polygenic-risk functional analysis, Clinical genetic prediction model Source: lab pages No openings posted	Symposium Wed Oct 21 8:37 am Deciphering phenotypic and genetic heterogeneity in autism: Examples from co-occurring neuropsychiatric conditions and quantitative symptoms Autism Genetics: Integrating Biological Insights with Societal Impacts
Samocha Labsamochalab.org Dry lab~6 people Analyzes exome sequencing, gnomAD and UK Biobank data to interpret rare genetic variation. Develops statistical methods for disease association and variant interpretation. 27 papers since 2024 › Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes Nature, 2024 Examining the role of common variants in rare neurodevelopmental conditions Nature, 2024 Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery Genome Medicine, 2024 Source: OpenAlex author A5036423566 8 platforms and techniques › Analyzes Exome sequencing, Illumina amplicon sequencing Techniques De novo mutation modeling, Mutational constraint scoring, Rare-variant disease association, Variant interpretation using gene-, region- and variant-level evidence, Compound-heterozygosity inference, Genomic dataset quality control Source: lab pages Currently hiring › “We are open to inquiries about postdoctoral fellows.” Source: lab positions page No funding stated	Moderator Thu Oct 22 8:15 am New Adventures in Molecular Trait Mapping Poster Thu Oct 22 4:15 pm High-resolution interactome constraint from 730,947 exomes maps structural signatures of purifying selection and predicts clinical variant pathogenicity Molecular Effects of Genetic Variation Collaborators: Broad Institute Protein structurePopulation geneticsGenetic variation
Translational Genomics Groupthe-tgg.org Dry lab~64 people Applies exome, genome and RNA sequencing and maintains seqr on AnVIL. Supports rare-disease diagnosis through gnomAD, ClinGen and Broad Clinical Labs. 96 papers since 2024 › Genomic data in the All of Us Research Program Nature, 2024 Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations Nature Medicine, 2024 Genome Sequencing for Diagnosing Rare Diseases New England Journal of Medicine, 2024 Source: OpenAlex author A5014144046 Funded by National Institutes of Health, Chan Zuckerberg Initiative +1 more › National Institutes of Health, Clinical Genome Resource (ClinGen) · active ““The Clinical Genome Resource (ClinGen) is a NIH-funded program”” Chan Zuckerberg Initiative, Rare disease prevalence project · active Philanthropic science funding from the Chan Zuckerberg Initiative. ““this Chan Zuckerberg Initiative (CZI)-funded project created and maintains the Genetic Prevalence Estimator”” NHGRI, eMERGE Network · active ““The Electronic Medical Records and Genomics (eMERGE) Network, funded and organized by NHGRI”” Source: lab pages 11 platforms and techniques › Analyzes Exome sequencing, Genome sequencing, RNA sequencing, seqr on AnVIL, Genetic Prevalence Estimator (GeniE) Techniques Rare variant interpretation, Variant curation, Computational pipelines, Machine learning, Gene-disease association curation, Rare-disease case analysis Source: lab pages No openings posted	Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Guidance from the American College of Medical Genetics and Genomics expected to reduce impact of VUS in genetic testing Laboratory Genetics and Genomics Collaborators: Broad Institute, McMaster University +12 more Genetic testingLaboratory genetics and genomicsPolicy issues in“I can't wait to see all my awesome colleagues in the lovely city of Montreal!”
Urbut Labsurbut.github.io/Urbut_lab Dry lab Integrates electronic health records with genome-wide arrays, whole-exome and whole-genome sequencing, and multi-omics data. Develops Bayesian models for disease-risk prediction and disease trajectories. 52 papers since 2024 › 2026 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association Circulation, 2026 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association Circulation, 2025 2024 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association Circulation, 2024 Source: OpenAlex author A5062644419 Funded by National Heart, Lung, and Blood Institute, American Heart Association +1 more › National Heart, Lung, and Blood Institute, K08 grant 1K08HL183784 · active “This work was supported by NHLBI K08 grant (1K08HL183784)” American Heart Association, Career Development Award 25CDA1444806 · active “American Heart Association Career Development Award (25CDA1444806)” Burroughs Wellcome Fund, Award 1360373 · active “Burroughs Wellcome Fund award (1360373)” Source: lab pages 12 platforms and techniques › Analyzes electronic health records, genome-wide arrays, whole-exome sequencing, whole-genome sequencing, transcriptomic data, proteomic data, methylation data Techniques dynamic modeling, causal inference, polygenic risk scoring, EHR phenotyping, machine learning Source: lab pages Currently hiring › “The Urbut Lab has a unique research fellow position open for a highly qualified applicant” Source: lab positions page	Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Recovering age-varying polygenic effects from electronic health records: a unified framework for proportional-hazards violations and short-horizon clinical risk Statistical Genetics and Genetic Epidemiology Collaborators: Dana-Farber Cancer Institute Machine learningPolygenic risk scoreStatistical genetics
Brand Labresearch.massgeneralbrigham.org/en/institutes-centers/neuroscience-institute/department-of-neurology/brand-lab Dry lab Analyzes whole-genome sequencing and long-read data with computational and cloud-based frameworks. Applies structural-variation methods to developmental disorders and prenatal and maternal health. 42 papers since 2024 › Genome Sequencing for Diagnosing Rare Diseases New England Journal of Medicine, 2024 Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes Nature, 2024 A harmonized public resource of deeply sequenced diverse human genomes Genome Research, 2024 Source: OpenAlex author A5000904315 7 platforms and techniques › Analyzes Whole-genome sequencing (WGS), Illumina sequencing, Long-read sequencing Techniques Structural-variation detection and interpretation, SV association studies, Gene discovery, WGS genomic diagnostics Source: lab pages No funding stated · No openings posted	Moderator Wed Oct 21 11:00 am Clone Wars: Mutability and Its Consequences
Leaf Lableaflab.org/team Works in population genetics. 42 papers since 2024 › Glucarpidase for treatment of high-dose methotrexate toxicity Blood, 2025 Diagnosis and management of immune checkpoint inhibitor–associated nephrotoxicity: a position statement from the American Society of Onco-nephrology Kidney International, 2024 Derivation and external validation of a simple risk score for predicting severe acute kidney injury after intravenous cisplatin: cohort study BMJ, 2024 Source: OpenAlex author A5020460043	Talk Thu Oct 22 11:30 am Polygenic Risk Methods Development (PRIMED) Consortium advances polygenic risk scores for diverse traits and ancestries by federated analysis of multiple large-scale biobanks Polygenic Risk Score: From Modeling to Clinical Decision BioinformaticsComplex traitsComputational toolsPolygenic risk score
Center for Computational and Integrative Biology Research group.	Talk Wed Oct 21 2:07 pm Population-scale immune multiome atlas of 10 million PBMCs reveals regulatory disease mechanisms in FinnGen Genetic Variation: From Catalogs to Consequences Collaborators: Broad Institute, Finnish Red Cross +2 more Expression quantitative trait lociGene regulationLarge-scale biobanksMulti-omics Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Population-scale immune multiome atlas of 10 million PBMCs reveals regulatory disease mechanisms in FinnGen Molecular Effects of Genetic Variation Collaborators: Broad Institute, Finnish Red Cross +2 more Expression quantitative trait lociGene regulationLarge-scale biobanksMulti-omics
Genetics and Aging Research Unit Works in population genetics and computational genetics.	Poster Thu Oct 22 4:15 pm Whole-Genome Meta-Analysis of APOE-Specific Risk in Alzheimer’s Disease Complex Traits and Polygenic Disorders Collaborators: University of South Alabama, Beth Israel Deaconess Medical Center +1 more Alzheimer’s diseaseBioinformaticsComplex diseasesGenome-wide association study
Molecular Neurogenetics Unit Works in therapeutics.	Poster Thu Oct 22 4:15 pm Simultaneous single nuclei RNA-seq and CAG repeat sizing of over 200,000 nuclei in striatum and cortex reveals partial transcriptional dysregulation rescue from Msh3 KO in Huntington’s disease mice. Genetic Therapies and Precision Medicine Single-cellNeurodegenerationGene therapyGenome editing/CRISPR
Morini Laboratory Works in therapeutics.	Talk Sat Oct 24 8:30 am Characterization and Targeting of Intronic Splicing Variants in Neurological Disease with an AI-Informed Prime-Editing Framework Translational and Technological Advances in Genetic Therapies Collaborators: Broad Institute Alternative splicingGene therapyGenome editing/CRISPRNervous system in“See you in Montreal next year!”
Slaugenhaupt and Morini Lab Works in rare disease.	Poster Fri Oct 23 2:30 pm Identification and functional validation of pathogenic splicing variants in neurodevelopmental disorders. Molecular Effects of Genetic Variation Collaborators: Broad Institute Alternative splicingNeurodevelopmentalNeurogeneticsGenome editing/CRISPR
Wheeler Lab Works in rare disease.	Plenary Fri Oct 23 4:49 pm CRISPR-Cas9 screening reveals ATAD5 as a tissue-specific modifier of CAG instability in Huntington’s disease mice Awards Recognition & Plenary Abstract Session III NeurodegenerationGenome editing/CRISPRTriplet and other repeatsGenetic instability
Slaugenhaupt Lab Research group.	Session Tue Oct 20 4:30 pm Finding Your Voice in Science: Reflections on Leadership and Resilience Moderator Wed Oct 21 4:30 pm Awards Recognition & Presidential Symposium: Communicating Science in an Uncertain World: Evidence, Storytelling, and Public Trust Session Thu Oct 22 1:30 pm Community Conversations: Scientific Communication ★1 invited symposium speaker

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