Harvard Medical School at ASHG 2026
Oct 20–24, 2026 Montréal, Canada ~7.5k attendees Website
Harvard Medical School brings 20 presentations from 14 research groups to ASHG 2026 in Montréal. Its program centres on rare disease and cancer genetics, population-scale computation, and genomic medicine. The Sunyaev Lab brings variant-effect inference from 731,000 exomes, the Talkowski Lab brings long-read structural variants in All of Us, and the AEGIS Lab brings work on structural variants arising under replication stress.
| Organization | ASHG 2026 Attendance |
|---|---|
Harvard Medical School Boston, Massachusetts | 8 PhD Students · 5 PIs · 4 Postdocs · 2 Staff Scientists |
Sunyaev Labsunyaevlab.hms.harvard.edu/wiki/%21web Develops computational and statistical methods for whole-genome sequencing, GWAS and epigenomic datasets. Studies genetic variation, cancer genomics and rare diseases through the Undiagnosed Diseases Network.
| Poster Wed Oct 21 2:30 pm Transposable elements record a history of tandem repeat evolution and transitions from functional to neutral equilibria. Evolutionary geneticsGenetic instabilityGenomic structureNatural selection Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Concordant pleiotropic effects between gene pairs reveal molecular mechanisms of diseaseComplex traitsIdentification of disease genesLarge-scale biobanksStatistical genetics Poster Thu Oct 22 4:15 pm Inference of elevated mutation rates and variant effects using 731k exomes Large-scale biobanksMathematical modelingNatural selectionPopulation genetics Poster Thu Oct 22 4:15 pm A catalog of pathogenic variant compensations reveals protein language models capture distal and proximal epistasis Artificial intelligenceBioinformaticsProtein structureEvolutionary genetics Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Intragenically bound TFs regulate RNA polymerase II rate and co-transcriptional splicing, underlying a hidden layer of human genetic variationTranscription factorSplicing mechanismsVariant interpretationGene regulation |
Talkowski Labtalkowski.mgh.harvard.edu/about/people-2 Studies structural variation using whole-genome sequencing, long-read sequencing and iPSC-derived neural cell lines. Supports studies of autism, fetal anomalies and psychiatric disorders.
| Talk Wed Oct 21 2:03 pm Discovery of genetic risk factors in stillbirth highlights evolutionary constraint and incomplete penetrance Clinical geneticsDevelopmentEvolutionary geneticsIdentification of disease genes Poster Wed Oct 21 2:30 pm Long read sequencing reveals novel structural variants underlying complex trait associations Copy number/structural variationLong-read sequencingLinkage disequilibriumComplex traits Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Discovery of genetic risk factors in stillbirth highlights evolutionary constraint and incomplete penetranceClinical geneticsDevelopmentEvolutionary geneticsIdentification of disease genes Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice The complex landscape of SINE-VNTR-Alu elements and their functional impact from long-reads sequencing and multiomics profiling in All of UsCopy number/structural variationExome/genome sequencingLarge-scale biobanksPopulation genetics Session Fri Oct 23 11:00 am |
AEGIS Labaegislab.bio Builds algorithms for cancer structural variants and somatic mutations from genome-sequencing data. Uses mutational signatures and AI with clinicians for early detection and drug-target discovery.
| Poster Fri Oct 23 2:30 pm Replication fork directionality reveals how structural variants arise under replication stress Copy number/structural variationGenomicsMolecular therapeuticsAneuploidy |
Bod Labbodlab.mgh.harvard.edu Deciphers phenotypic and functional B cell states within tumors using multi-omics technologies. Identifies B cell biomarkers and novel cancer targets using genetic and genomics approaches.
| Poster Wed Oct 21 2:30 pm Proteomics at genomic scales: insights from longitudinal and pan-cancer cohorts ProteomicsCancerImmune system |
Center for Bioethicsbioethics.hms.harvard.edu Conducts normative and empirical research on clinical care, research and public policy. Works with Harvard Medical School, Harvard University and affiliated teaching hospitals.
| Poster Thu Oct 22 4:15 pm Communicating Genetic Influence: Lay Perceptions of Validity and Causality in Polygenic Score Interpretation Polygenic risk scoreGenome-wide association studyEducationPopulation genetics |
Genomes2People (G2P) Research Programgenomes2people.org Studies whole-genome and whole-exome sequencing data from newborns, adults, Veterans and biobanks. Evaluates genomic medicine implementation, health outcomes and return of results.
| Poster Fri Oct 23 2:30 pm Sequencing for a Lifetime: Expert Perspectives on Value, Feasibility, and the Governance Gap in Lifelong Genomic Medicine Ethical, legal, and social implicationsNewborn screeningPolicy issuesPrecision medicine |
Gupta Labgupta.bwh.harvard.edu Applies human genetics, genomics, single-cell analysis and CRISPR perturbation screens to vascular disease. Seeks mechanisms and therapeutic targets for coronary artery disease and stroke.
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Gusev Labgusevlab.org Develops statistical methods for single-cell transcriptomics, epigenomics and electronic health record data. Studies disease mechanisms, treatment response and prediction in large clinical cohorts.
| Poster Wed Oct 21 2:30 pm Relatives' similarity in test score performance is explained by a wide range of genetic and environmental parameters EducationGene environment interactionGenotype-phenotype correlationsStatistical genetics |
Loh Labstatgen.bwh.harvard.edu Develops computational tools for quantitative genetics and biobank-scale genetic data. Studies copy-number variants, variable number tandem repeats and mosaic chromosomal alterations.
| Poster Fri Oct 23 2:30 pm The landscape of mosaic chromosomal alterations across healthy human tissues AneuploidyChromosomal abnormalitiesMosaicismMutation detection |
O'Connor Laboconnorlab.hms.harvard.edu Develops statistical methods for GWAS, exome, genotype and perturbation-atlas data. Uses them to study common-disease and complex-trait genetic architecture.
| Poster Wed Oct 21 2:30 pm Li–Stephens read-graph inference for pangenome variant calling from short reads Genetic variationGenomic structureGenomicsPopulation genetics |
Ocular Genomics Instituteoculargenomics.meei.harvard.edu Analyzes GWAS, e/sQTL and single-cell expression data from ocular and non-ocular tissues. Studies glaucoma, inherited retinal degenerations and macular degeneration.
| Poster Thu Oct 22 4:15 pm Concordant cryptic exon activation by deep intronic variants across HEK-293 cells, retinal organoids, and mouse retina validates cultured-cell splicing assays Alternative splicingRare variantsRNAVariant interpretation |
Gao Labdgaolab.org Develops bioinformatics algorithms for bulk and single-cell transcriptomics and epigenomics, including scRNA and RNASeq. Applies them to neurodegeneration and computational treatment development.
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Price Labhsph.harvard.edu/research/price-lab Works in population genetics and computational genetics.
| Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Learning nonlinear contributions of functional annotations to complex disease heritability with neural networksDeep learningGenome-wide association studyHeritabilityStatistical genetics |
Channing Division of Network Medicine Works in clinical genetics. | Poster Fri Oct 23 2:30 pm X Chromosome Inactivation Escape and Sex Differences in COPD BioinformaticsEpigeneticsEpigenome-wide association studiesMethylation |
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