ASHG 2026 · Tier 1 Academic

Harvard Medical School at ASHG 2026

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

Boston, Massachusetts

Harvard Medical School at ASHG 2026 in Montréal: 16 presentations (14 posters, 1 featured symposium, 1 lightning talk); 10 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
Harvard Medical School Boston, Massachusetts	8 PhD Students · 4 PIs · 3 Postdocs · 1 Staff Scientist
Sunyaev Labsunyaevlab.hms.harvard.edu/wiki/%21web Dry lab~15 people 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. 24 papers since 2024 › Deciphering the impact of genomic variation on function Nature, 2024 CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods Genome biology, 2024 Quantifying constraint in the human mitochondrial genome Nature, 2024 Source: OpenAlex author A5068462201 Funded by NIH › NIH, Common Fund · active “a research study backed by the NIH Common Fund program” Source: lab pages 11 platforms and techniques › Analyzes whole-genome sequencing, GWAS, epigenomic datasets, tandem mass spectrometry, gene expression QTL (eQTL), single-cell data Techniques machine learning, rare variant association testing, polygenic risk scoring, population genetics modeling, mutation-rate modeling Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm Transposable elements record a history of tandem repeat evolution and transitions from functional to neutral equilibria. Evolutionary and Population Genetics Evolutionary geneticsGenetic instabilityGenomic structureNatural selection Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Concordant pleiotropic effects between gene pairs reveal molecular mechanisms of disease Statistical Genetics and Genetic Epidemiology Complex 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 Evolutionary and Population Genetics Collaborators: Massachusetts General Hospital, Brigham and Women's Hospital +1 more 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 Intelligence and Machine Learning 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 variation Molecular Effects of Genetic Variation Collaborators: Altius Institute for Biomedical Sciences, University of Washington Transcription factorSplicing mechanismsVariant interpretationGene regulation
Talkowski Labtalkowski.mgh.harvard.edu/about/people-2 Wet + dry lab~39 people 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. 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 NSF, NIH +1 more › NSF, graduate research fellowship · active “is an NSF graduate research fellow” NIH, F31 predoctoral fellowship · active “as well as an NIH F31 predoctoral fellow” NIH, K99/R00 pathway to independence grant “received a NIH K99/R00 pathway to independence grant” Source: lab pages 15 platforms and techniques › Works with Whole Genome Sequencing, Illumina HiSeq 2500, Illumina HiSeq 2000, Illumina MiSeq, Covaris E220, Agilent Tapestation 2200, Roche LightCycler 480, GATK-SV pipeline Techniques CRISPR/Cas9 genome editing, Short- and long-read whole-genome sequencing, Genome editing in stem cell models, iPSC-derived neural cell lines, Optical mapping, Pangenome-based tools, CRISPRi-TnSeq Source: lab pages Currently hiring › “We are always willing to consider highly motivated young scientists interested in postdoctoral fellowships” Source: lab positions page	Talk Wed Oct 21 2:03 pm Discovery of genetic risk factors in stillbirth highlights evolutionary constraint and incomplete penetrance Clinical Genetics Across the Lifespan: From Gene Discovery to Prenatal, Developmental, and Pharmacogenomic Insights Collaborators: Massachusetts General Hospital, Broad Institute +6 more Clinical geneticsDevelopmentEvolutionary geneticsIdentification of disease genes Poster Wed Oct 21 2:30 pm Long read sequencing reveals novel structural variants underlying complex trait associations Complex Traits and Polygenic Disorders Collaborators: Massachusetts General Hospital, Broad Institute +4 more 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 penetrance Prenatal, Perinatal, Reproductive, and Developmental Genetics Collaborators: Massachusetts General Hospital, Broad Institute +6 more Clinical 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 Us Molecular Effects of Genetic Variation Collaborators: Massachusetts General Hospital, Broad Institute +1 more Copy number/structural variationExome/genome sequencingLarge-scale biobanksPopulation genetics Moderator Fri Oct 23 11:00 am Splicing in Disease Etiology
AEGIS Labaegislab.bio Dry lab~1 people 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. 5 platforms and techniques › Analyzes duplex sequencing Techniques supervised machine learning, mutational signature analysis, structural variant analysis, synthetic lethality Source: lab pages Currently hiring › “We are looking for a postdoctoral research fellow with a background in genomics, applied machine learning, molecular pathology, synthetic lethality, or DNA repair.” Source: lab positions page No funding stated	Poster Fri Oct 23 2:30 pm Replication fork directionality reveals how structural variants arise under replication stress Cancer Collaborators: University of Manchester 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. 13 papers since 2024 › Overcoming resistance to immunotherapy by targeting CD38 in human tumor explants Cell Reports Medicine, 2025 The DAV132 colon-targeted adsorbent does not interfere with plasma concentrations of antibiotics but prevents antibiotic-related dysbiosis: a randomized phase I trial in healthy volunteers Nature Communications, 2024 Disrupting CD38-driven T cell dysfunction restores sensitivity to cancer immunotherapy bioRxiv (Cold Spring Harbor Laboratory), 2024 Source: OpenAlex author A5103221881 2 platforms and techniques › Techniques multi-omics technologies, genetic and genomics approaches Source: lab pages No funding stated · No openings posted	Poster Wed Oct 21 2:30 pm Proteomics at genomic scales: insights from longitudinal and pan-cancer cohorts Cancer Collaborators: Broad Institute ProteomicsCancerImmune system
Gupta Labgupta.bwh.harvard.edu Wet + dry lab~10 people 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. 24 papers since 2024 › Endothelial cell-related genetic variants identify LDL cholesterol-sensitive individuals who derive greater benefit from aggressive lipid lowering Nature Medicine, 2025 Convergence of coronary artery disease genes onto endothelial cell programs Nature, 2024 Deciphering the impact of genomic variation on function Nature, 2024 Source: OpenAlex author A5021299742 Funded by NIH, National Heart Lung and Blood Institute +3 more › NIH, NIH Director’s New Innovator Award · 2019 “NIH (NIH Director’s New Innovator Award, 2019)” National Heart Lung and Blood Institute · active “the National Heart Lung and Blood Institute” Broad · active “the Broad” +2 more on the lab page Source: lab pages 14 platforms and techniques › Runs Whole Exome Sequencing, Whole Genome Sequencing, Single-cell RNA-sequencing, ATAC-seq, Perturb-seq, Pooled CRISPR perturbation screens Techniques Genetic epidemiology, Epigenetics, High-throughput CRISPR/Cas9-based genome editing, Genome-wide association studies, Flow cytometry, Cellular histology, Confocal microscopy/live-cell imaging, Mouse aorta model Source: lab pages Currently hiring › “The Gupta Laboratory ... is looking for a self-motivated, curious research assistant interested in using new genomic methods to study vascular disease.” Source: lab positions page	Symposium Fri Oct 23 9:05 am Complex disease: Integrating maps of genome function with genetic risk scores to improve cardiovascular disease prevention The IGVF Consortium: Deciphering the Impact of Genomic Variation on Genome Function
Gusev Labgusevlab.org Dry lab Develops statistical methods for single-cell transcriptomics, epigenomics and electronic health record data. Studies disease mechanisms, treatment response and prediction in large clinical cohorts. 112 papers since 2024 › Lung cancer in patients who have never smoked — an emerging disease Nature Reviews Clinical Oncology, 2024 Genetic and molecular architecture of complex traits Cell, 2024 Cross-ancestry atlas of gene, isoform, and splicing regulation in the developing human brain Science, 2024 Source: OpenAlex author A5044886059 Funded by Common Fund of the Office of the Director of the National Institutes of Health › Common Fund of the Office of the Director of the National Institutes of Health, Genotype-Tissue Expression (GTEx) Project · active “The Genotype-Tissue Expression (GTEx) Project was supported by the Common Fund of the Office of the Director of the National Institutes of Health.” Source: lab pages 7 platforms and techniques › Analyzes ATAC-seq Techniques Statistical modeling, GWAS, Single-cell transcriptomics, Machine learning, Survival analysis, Fine-mapping Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm Relatives' similarity in test score performance is explained by a wide range of genetic and environmental parameters Complex Traits and Polygenic Disorders EducationGene environment interactionGenotype-phenotype correlationsStatistical genetics
Loh Labstatgen.bwh.harvard.edu Dry lab~5 people Develops computational tools for quantitative genetics and biobank-scale genetic data. Studies copy-number variants, variable number tandem repeats and mosaic chromosomal alterations. 22 papers since 2024 › The Somatic Mosaicism across Human Tissues Network Nature, 2025 Genetic drivers and cellular selection of female mosaic X chromosome loss Nature, 2024 Protein-altering variants at copy number-variable regions influence diverse human phenotypes Nature Genetics, 2024 Source: OpenAlex author A5048717316 Funded by Burroughs Wellcome Fund, Glenn Foundation for Medical Research and AFAR +2 more › Burroughs Wellcome Fund, Career Award at the Scientific Interfaces · active “Burroughs Wellcome Fund Career Award at the Scientific Interfaces” Glenn Foundation for Medical Research and AFAR, Grant for Junior Faculty · active “Glenn Foundation for Medical Research and AFAR Grant for Junior Faculty” Broad Institute, Next Generation Fund award · active “a Broad Institute Next Generation Fund award” +1 more on the lab page Source: lab pages 9 platforms and techniques › Analyzes SNP-array genotyping, Whole-genome sequencing reference panels Techniques Statistical phasing, Genotype imputation, Haplotype-informed CNV detection, Linear mixed models, HMM-based algorithms, BOLT-LMM, BOLT-REML Source: lab pages No openings posted	Poster Fri Oct 23 2:30 pm The landscape of mosaic chromosomal alterations across healthy human tissues Omics Technologies Collaborators: Broad Institute, Brigham and Women's Hospital AneuploidyChromosomal abnormalitiesMosaicismMutation detection
O'Connor Laboconnorlab.hms.harvard.edu Dry lab~8 people Develops statistical methods for GWAS, exome, genotype and perturbation-atlas data. Uses them to study common-disease and complex-trait genetic architecture. Funded by K99/R00 › K99/R00, Unraveling Complex Disease Genetics Using Graphs and Graph Algorithms · active “received an NOA for his K99/R00 application titled “Unraveling Complex Disease Genetics Using Graphs and Graph Algorithms.”” Source: lab pages 12 platforms and techniques › Analyzes GWAS data, Exome data, Genotype data, Perturbation atlases, Pangenome graphs, Summary statistics Techniques Graphical models, Genome-wide genealogies, Functional annotation integration, Rare-variant association analysis, Heritability partitioning, Statistical genetics Source: lab pages Currently hiring › “We are currently looking for doctoral students, masters students, and postdoctoral researchers to join the lab.” Source: lab positions page	Poster Wed Oct 21 2:30 pm Li–Stephens read-graph inference for pangenome variant calling from short reads Omics Technologies Genetic variationGenomic structureGenomicsPopulation genetics
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	Attendee in“Recognition at ASHG 2026. Our postdoc, [name], earned a platform talk at American Society of Human Genetics (ASHG) 2026 and was named a finalist for the…”
Price Labhsph.harvard.edu/research/price-lab Works in population genetics and computational genetics. 24 papers since 2024 › Deciphering the impact of genomic variation on function Nature, 2024 Tissue-specific enhancer–gene maps from multimodal single-cell data identify causal disease alleles Nature Genetics, 2024 Pervasive findings of directional selection realize the promise of ancient DNA to elucidate human adaptation bioRxiv (Cold Spring Harbor Laboratory), 2024 Source: OpenAlex author A5066797582	Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Learning nonlinear contributions of functional annotations to complex disease heritability with neural networks Artificial Intelligence and Machine Learning Deep learningGenome-wide association studyHeritabilityStatistical genetics

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