Yale University at ASHG 2026
Oct 20–24, 2026 Montréal, Canada ~7.5k attendees Website
Yale University brings 37 presentations from 21 research groups to ASHG 2026 in Montréal. Its program centres on rare disease, cancer, and computational and population genetics. Lake Lab brings primate mitochondrial variation for human variant interpretation, Reilly Lab presents single-cell reporter assay modeling, and Gerstein Lab presents AI drug repurposing for brain disorders.
| Organization | ASHG 2026 Attendance |
|---|---|
Yale University New Haven, Connecticut | 12 PhD Students · 7 PIs · 6 Staff Scientists · 4 Postdocs |
Lake Labthelakelab.org Studies mitochondrial and nuclear genomes using computational and experimental methods and sequencing data. Develops mitochondrial variant-classification resources for disease-risk prediction.
| Talk Wed Oct 21 2:19 pm A rapid workflow for generating and characterizing mutations in mitochondrial DNA Cellular metabolismMitochondriaGenome editing/CRISPRGenetic variation Poster Wed Oct 21 2:30 pm Using 3D structural information to identify regional constraint in mitochondrial DNA-encoded genes Evolutionary geneticsGenetic variationMitochondriaPopulation genetics Poster Wed Oct 21 2:30 pm Primate mitochondrial variation as a resource for human variant interpretation Evolutionary geneticsMitochondriaVariant interpretationNatural selection Session Thu Oct 22 1:30 pm Poster Fri Oct 23 2:30 pm Genome, Gene, and Protein-Level Conservation of Human mtDNA Across 18,000 Species MitochondriaEvolutionary geneticsBioinformaticsComputational tools Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice A rapid workflow for generating and characterizing mutations in mitochondrial DNACellular metabolismGenetic variationGenome editing/CRISPRMitochondria |
Gerstein Labgersteinlab.org Analyzes bulk, single-cell, multi-omic and spatial genomic data with statistical and AI methods. Works on genome annotation, disease genomics, protein structure and biomedical privacy.
| Poster Wed Oct 21 2:30 pm Using a DNA Sequence Based Transformer Model to Predict Genomic Variants Exhibiting Allele-Specific Effects Artificial intelligenceTranscription factorGenetic variationSNP analysis/discovery Poster Thu Oct 22 4:15 pm Drug Repurposing for Brain Disorders: Using an AI Model Integrating Single-Cell Multi-omics with Large- Scale Genomic Variants and 3D Structures Artificial intelligenceComputational toolsMolecular therapeuticsMulti-omics Poster Thu Oct 22 4:15 pm Predicting Effects of Structural Variant on Nearby Gene Expression Through Multimodal Genomic Foundation Model Embeddings Artificial intelligenceCopy number/structural variationGene regulationGenomics |
Reilly Labreilly-lab.com Builds tools using MPRA, CRISPR perturbation and 1000 Genomes data. Studies non-coding regulatory variation in human evolution, traits and disease.
| Session Tue Oct 20 5:00 pm Poster Thu Oct 22 4:15 pm Modeling, calibration, and power analysis of single-cell massively parallel reporter assays. BioinformaticsClinical geneticsComplex traitsComputational tools Session Fri Oct 23 11:00 am Poster Fri Oct 23 2:30 pm Functional Dissection of Somatic Mosaicism in Autism Spectrum Disorder AutismSomatic variantsMosaicismMassively parallel sequencing |
Aitken Labaitkenlab.org Generates and analyzes CRISPR, single-cell sequencing, spatial transcriptomics and image-analysis data. Studies DNA damage, mutagenesis and cancer evolution in human cells, tissues and gastrointestinal disease.
| Symposium Wed Oct 21 8:20 am Poster Thu Oct 22 4:15 pm Population genetics of rare coding variants at HOXB13 and their relevance to prostate cancer risk in sub-Saharan Africa BioinformaticsCancerGenetic epidemiologyGenetic variation |
Center for Statistical Genomics and Proteomicszhaocenter.org/team.html Develops statistical methods for GWAS, single-cell, spatial transcriptomics, exome and genome sequencing data. Uses them for disease-gene discovery and genetic risk prediction.
| Poster Thu Oct 22 4:15 pm SPADE: A gene-program-based generative model for interpretable spatial perturbation response prediction Spatial transcriptomicsComputational toolsMachine learningSingle-cell Poster Fri Oct 23 2:30 pm Sequence-Informed Gene Constraint and Cell-Type Constraint Mapping for Rare Disease Discovery Artificial intelligenceStatistical geneticsRare variantsGene regulation |
Gelernter Labmedicine.yale.edu/lab/gelernter Studies psychiatric genetics with GWAS, sequence-based and epigenetic analyses of biobank data. Works with the Million Veteran Program and Psychiatric Genomics Consortium.
| Poster Thu Oct 22 4:15 pm Genome-wide association study of nightmare frequency and nightmare disorder reveals 18 novel risk loci and shared genetic architecture with psychiatric disorders Psychiatric geneticsComplex traitsGenome-wide association studyStatistical genetics Poster Fri Oct 23 2:30 pm The role of genetic predisposition to physical activity in cancer traits CancerComplex traitsGenetic epidemiologyGenome-wide association study |
Girgenti Labgirgentilab.org/people Performs whole-genome and transcriptome RNA sequencing, whole-genome bisulfite sequencing, and single-nuclei RNA, ATAC, and DNA-methylation assays. Studies PTSD and major depression.
| Poster Wed Oct 21 2:30 pm Poster Wed Oct 21 2:30 pm |
Polimanti Labmedicine.yale.edu/lab/polimanti Applies big data analytics to molecular, clinical, imaging and electronic-health-record data. Studies psychiatric disease and Gulf War Illness with the Million Veteran Program.
| Poster Thu Oct 22 4:15 pm Genetically Informed Drug Repurposing to Identify Novel Therapeutics for Gulf War Illness TranscriptomeComplex diseases Poster Thu Oct 22 4:15 pm Identifying disease trajectories of Gulf War Illness in Veterans enrolled in the Million Veteran Program with electronic health records BioinformaticsClinical geneticsComplex diseasesElectronic health records |
Tucci Lab @ Yaletuccilab.org Uses genome-wide sequencing of DNA from present-day and ancient humans. Reconstructs past demographic events and human adaptation.
| Poster Thu Oct 22 4:15 pm Admixture and selection shape patterns of genetic variation at the FADS locus in Oceanic populations Evolutionary geneticsNatural selectionPopulation geneticsPopulation structure Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Long-term isolation and archaic introgression shape functional genetic variation in Near OceaniaNatural selectionPopulation geneticsGene regulationGenomics |
Zhou Labmedicine.yale.edu/lab/hang-zhou Analyzes SNP array, whole-exome sequencing and whole-genome sequencing data from human biobanks. Studies genetic risk and etiology of alcohol and substance use disorders.
| Poster Wed Oct 21 2:30 pm Multi-Ancestry Whole-Genome Sequencing Study of Tobacco Use Disorder Across Biobanks Complex traitsExome/genome sequencingGenome-wide association studyLarge-scale biobanks Poster Fri Oct 23 2:30 pm Exploring the Genetic Architecture of Alcohol Use Disorder Using Multi-ancestry Whole-genome Sequencing Genetic variationGenome-wide association studyPopulation geneticsPsychiatric genetics |
Jiang Labmedicine.yale.edu/lab/jiang Develops CRISPR/Cas9 genome and epigenome therapies using patient-derived iPSCs, brain organoids and mutant mice. Targets autism, Angelman, Prader-Willi and related neurodevelopmental disorders.
| Talk Wed Oct 21 2:19 pm Brain-wide non-viral genome editing for Angelman syndrome using STEP-RNP delivery in non-human primates Brain/nervous systemGene therapyGenome editing/CRISPRNeurodevelopmental Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Brain-Wide Non-Viral Genome Editing for Angelman Syndrome Using STEP-RNP Delivery in Non-Human PrimatesBrain/nervous systemGene therapyGenome editing/CRISPRNeurodevelopmental |
Bakhoum Labbakhoumlab.org/people.html Studies uveal melanoma with patient-derived models, clinical data and functional experiments. Uses OCT scans to identify retinal ischemia and develops therapeutic targets and cardiovascular biomarkers.
| Poster Thu Oct 22 4:15 pm Epigenetic Drift Following BAP1 Loss Drives PRC1 Collapse and Metastatic Competence in Uveal Melanoma CancerEpigeneticsGene regulationIdentification of disease genes |
Cheng Labhcheng-lab.github.io/team Develops genome-assembly, alignment and variant-calling algorithms for long-read and Hi-C data. Applies them to pangenome and Darwin Tree of Life projects.
| Poster Fri Oct 23 2:30 pm UniPhase: Joint Assembly-Based and Population-Level Haplotype Phasing HaplotypeLong-read sequencingPopulation geneticsLinkage disequilibrium |
Computational Biology and Biomedical Informaticscbb.yale.edu/faculty-labs Applies computational methods to genomics, proteomics, electronic health records, biosensors and imaging technologies. Uses data mining, machine learning and disease-process modeling for biomedical interpretation.
| Poster Wed Oct 21 2:30 pm Graph transformer inference links ligand-receptor signaling to target genes in spatial niches Artificial intelligenceBioinformaticsSingle-cellSpatial transcriptomics |
Gerstein & Simon Labsimonlab.yale.edu/people Develops chemical and biochemical tools for RNA dynamics, chromatin and gene expression, including TimeLapse chemistry and nucleotide-recoding sequencing. Studies epigenetic memory and regulated gene expression.
| Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Resolving Cis-Regulatory Variation Through Allele-Specific Analysis of High-Quality Human Genome AssembliesBioinformaticsCopy number/structural variationGenetic variationHaplotype |
Koch Labthe-koch-lab.github.io We develop population-genetic theory, statistical methods, and computational tools. Biobank GWAS enable analyses of genetic architecture.
| Symposium Wed Oct 21 8:15 am |
Vaccarino Labmedicine.yale.edu/lab/vaccarino Studies human brain development with iPSC-derived brain organoids, RNA-seq, single nuclei RNA-seq, ChIP-seq and ATAC-seq. Research addresses autism, Tourette syndrome and somatic mosaicism.
| Poster Wed Oct 21 2:30 pm A comprehensive view of somatic mosaicism by single-cell DNA analysis Gene environment interactionGenomicsMosaicismSingle-cell |
Zhao Labzhaocenter.org/index.html Develops statistical methods for genome-wide association, single-cell RNA-seq, spatial transcriptomics and whole-exome/whole-genome sequencing data. Uses them for disease-gene discovery, polygenic risk prediction and network modeling.
| Poster Fri Oct 23 2:30 pm Sparse Annotation-Informed Variable Selection via Spike-and-Slab Priors Genome-wide association studyStatistical geneticsComplex traitsMathematical modeling |
Zhi Lab Computational Genomics and Biomedical AIzhigroup.github.io Builds algorithms and foundation models for population-scale genomics, electronic health records and brain MRI. Uses them for pangenomics, clinical prediction and imaging-genetics GWAS in UK Biobank.
| Poster Wed Oct 21 2:30 pm VoxSAG: voxel-resolution brain-aging GWAS in 34,494 UK Biobank participants identifies 80 risk loci and links medial-temporal-lobe aging to major depressive disorder Genome-wide association studyBrain/nervous systemLarge-scale biobanksDeep learning |
DeWan Lab Works in population genetics. | Poster Fri Oct 23 2:30 pm Identifying context-specific effects of a polygenic score on type 2 diabetes across ancestry groups in All of Us DiabetesPolygenic risk scoreGene environment interactionGenetic epidemiology |
Traumatic Stress Brain Research Group Works in population genetics and reproductive and prenatal genetics. | Poster Fri Oct 23 2:30 pm Interaction of polygenic risk and hormonal contraception on adolescent mental health Phenome-wide associationPolygenic risk scorePsychiatric geneticsWomen's health |
| 1 more presenter — research group not yet identified | |
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