ASHG 2026 · Tier 1 Academic

Yale University at ASHG 2026

New Haven, Connecticut

Yale University at ASHG 2026 in Montréal: 35 presentations (31 posters, 2 featured symposia, 2 lightning talks); 20 research groups.

35
presentations on the program
20
research groups identified
3
sessions invited to or moderated
5
Reviewers’ Choice abstracts

Explore everyone at ASHG 2026 →

OrganizationASHG 2026 Attendance
Yale University
New Haven, Connecticut
10 PhD Students · 7 PIs · 6 Staff Scientists · 4 Postdocs
Lake Labthelakelab.org
Wet + dry lab~7 people
Studies mitochondrial and nuclear genomes using computational and experimental methods and sequencing data. Develops mitochondrial variant-classification resources for disease-risk prediction.
29 papers since 2024
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Nature, 2024
Quantifying constraint in the human mitochondrial genome
Nature, 2024
Saturation mutagenesis-reinforced functional assays for disease-related genes
Cell, 2024
Source: OpenAlex author A5070185101
8 platforms and techniques
Techniques
genome editing technology, cell culturing, computational methods, statistical analysis, machine learning, mitochondrial constraint models, human cells, population genetic variation analysis
Source: lab pages
Currently hiring
“The Lake Lab is recruiting!”
Source: lab positions page
No funding stated
Talk
Wed Oct 21
2:19 pm
A rapid workflow for generating and characterizing mutations in mitochondrial DNA
Genetic Variation: From Catalogs to Consequences
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 and Population Genetics
Evolutionary geneticsGenetic variationMitochondriaPopulation genetics
Poster
Wed Oct 21
2:30 pm
Primate mitochondrial variation as a resource for human variant interpretation
Evolutionary and Population Genetics
Evolutionary geneticsMitochondriaVariant interpretationNatural selection
Moderator
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
Evolutionary and Population Genetics
MitochondriaEvolutionary geneticsBioinformaticsComputational tools
Poster
Fri Oct 23
2:30 pm
★ Reviewers’ Choice
A rapid workflow for generating and characterizing mutations in mitochondrial DNA
Molecular Effects of Genetic Variation
Cellular metabolismGenetic variationGenome editing/CRISPRMitochondria
Gerstein Labgersteinlab.org
Dry lab~112 people
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.
145 papers since 2024
GENCODE 2025: reference gene annotation for human and mouse
Nucleic Acids Research, 2024
Single-cell genomics and regulatory networks for 388 human brains
Science, 2024
Single-cell multi-cohort dissection of the schizophrenia transcriptome
Science, 2024
Source: OpenAlex author A5042321575
12 platforms and techniques
Analyzes
RNA-seq, ChIP-seq, single-cell data, multi-omic data, spatial data, cryo-EM images
Techniques
machine learning, macromolecular simulation, gene-regulatory networks, homomorphic encryption, large-language models, protein-protein interaction networks
Source: lab pages
Currently hiring
“Applicants are invited for a post-doctoral position at Yale University.”
Source: lab positions page
No funding stated
Poster
Wed Oct 21
2:30 pm
Using a DNA Sequence Based Transformer Model to Predict Genomic Variants Exhibiting Allele-Specific Effects
Artificial Intelligence and Machine Learning
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 Intelligence and Machine Learning
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 Intelligence and Machine Learning
Collaborators: Monash University
Artificial intelligenceCopy number/structural variationGene regulationGenomics
Aitken Labaitkenlab.org
Wet + dry lab~11 people
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.
20 papers since 2024
The artificial intelligence-based model ANORAK improves histopathological grading of lung adenocarcinoma
Nature Cancer, 2024
Strand-resolved mutagenicity of DNA damage and repair
Nature, 2024
Titration of RAS alters senescent state and influences tumour initiation
Nature, 2024
Source: OpenAlex author A5067780711
Funded by MRC, NIHR +3 more
MRC · active
“MRC”
NIHR · active
“NIHR”
Pathological Society of Great Britain & Ireland · active
“PATHOLOGICAL SOCIETY OF GREAT BRITAIN & IRELAND”
+2 more on the lab page
Source: lab pages
14 platforms and techniques
Works with
single-cell sequencing, spatial transcriptomics, exomes, genomes, duplex sequencing, bulk RNA-sequencing, single-cell RNA-sequencing, spatial RNA-sequencing
Techniques
CRISPR screens, organoids, laser capture microdissection, digital pathology, human cell models, error-corrected DNA sequencing
Source: lab pages
Currently hiring
“The Aitken Lab is hiring two postdocs (one computational, one experimental)”
Source: lab positions page
Symposium
Wed Oct 21
8:20 am
Pervasive lesion segregation and genetic background shape cancer evolution
Human Mutational Processes Underlying Genomic Signatures, Cancer, and Evolution
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
Evolutionary and Population Genetics
Collaborators: Georgia Institute of Technology, Fred Hutch Cancer Center +5 more
BioinformaticsCancerGenetic epidemiologyGenetic variation
Center for Statistical Genomics and Proteomicszhaocenter.org/team.html
Dry lab~16 people
Develops statistical methods for GWAS, single-cell, spatial transcriptomics, exome and genome sequencing data. Uses them for disease-gene discovery and genetic risk prediction.
246 papers since 2024
Mapping the genetic landscape across 14 psychiatric disorders
Nature, 2025
Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder
Nature Genetics, 2024
Twin-distortion modulated ultra-low coordination PtRuNi-Ox catalyst for enhanced hydrogen production from chemical wastewater
Nature Communications, 2024
Source: OpenAlex author A5074828414
14 platforms and techniques
Analyzes
single-cell RNA-seq, T cell receptor sequencing, spatial transcriptomics, whole-exome sequencing, whole-genome sequencing, bisulfite sequencing, microarrays, ATAC data
Techniques
genome-wide association studies, cell-type-specific eQTL fine-mapping, polygenic risk prediction, network reconstruction, rare disease gene mapping, single-cell multi-omics
Source: lab pages
No funding stated · No openings posted
Poster
Thu Oct 22
4:15 pm
SPADE: A gene-program-based generative model for interpretable spatial perturbation response prediction
Artificial Intelligence and Machine Learning
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 Intelligence and Machine Learning
Artificial intelligenceStatistical geneticsRare variantsGene regulation
Gelernter Labmedicine.yale.edu/lab/gelernter
Dry lab~12 people
Studies psychiatric genetics with GWAS, sequence-based and epigenetic analyses of biobank data. Works with the Million Veteran Program and Psychiatric Genomics Consortium.
155 papers since 2024
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program
Science, 2024
Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder
Nature Genetics, 2024
Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference
Nature Genetics, 2024
Source: OpenAlex author A5044047568
Funded by National Institutes of Health (NIMH, NIDA, NIAAA), United States Department of Veterans Affairs +3 more
National Institutes of Health (NIMH, NIDA, NIAAA) · active
“We lead ongoing NIH-funded projects based in the US and in Thailand, and receive funding from the National Institutes of Health (NIMH, NIDA, and NIAAA)”
United States Department of Veterans Affairs · active
“and the United States Department of Veterans Affairs”
National Institute on Alcohol Abuse and Alcoholism, T32 AA028259 · active
“T32 AA028259 funded by National Institute on Alcohol Abuse and Alcoholism”
+2 more on the lab page
Source: lab pages
9 platforms and techniques
Analyzes
3x whole genome sequencing, whole-exome sequencing, microarray genotyping
Techniques
GWAS, polygenic risk scores, transcriptome-wide association studies, Mendelian randomization, fine-mapping, post-GWAS analyses
Source: lab pages
No openings posted
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
Complex Traits and Polygenic Disorders
Collaborators: VA Boston Healthcare System, University of California San Diego +1 more
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
Statistical Genetics and Genetic Epidemiology
Collaborators: VA Connecticut Healthcare System
CancerComplex traitsGenetic epidemiologyGenome-wide association study
Girgenti Labgirgentilab.org/people
Wet + dry lab~14 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.
29 papers since 2024
Single-cell transcriptomic and chromatin dynamics of the human brain in PTSD
Nature, 2025
Single-cell genomics and regulatory networks for 388 human brains
Science, 2024
Digital phenotyping from wearables using AI characterizes psychiatric disorders and identifies genetic associations
Cell, 2024
Source: OpenAlex author A5005470509
Funded by US Department of Veteran Affairs
US Department of Veteran Affairs · active
“This work is supported by the US Department of Veteran Affairs”
Source: lab pages
13 platforms and techniques
Works with
Whole-genome sequencing, Transcriptome RNA sequencing, Whole-genome bisulfite sequencing, snRNA-seq, snATAC-seq, snDNAm, Hi-C
Techniques
Single-cell multi-omics, Patient-derived fibroblast cell lines, hiPSC-based approaches, Rodent models, eQTL and meQTL analysis, Postmortem human brain studies
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
Hippocampal Subregion Vulnerability and Neurovascular-Immune Remodeling in MDD and PTSD
Complex Traits and Polygenic Disorders
Collaborators: Tufts University
Psychiatric genetics
Poster
Wed Oct 21
2:30 pm
Single-Nucleus Multiomic Atlas of the Human Medial Amygdala Reveals Cell Type-Specific Molecular Alterations in the PTSD Brain
Complex Traits and Polygenic Disorders
Collaborators: University of Pittsburgh
Psychiatric geneticsSingle-cell
Polimanti Labmedicine.yale.edu/lab/polimanti
Dry lab~11 people
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.
83 papers since 2024
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program
Science, 2024
Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder
Nature Genetics, 2024
Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference
Nature Genetics, 2024
Source: OpenAlex author A5020097225
Funded by National Institute on Mental Health, Department of Veterans Affairs +3 more
American Foundation for Suicide Prevention, Postdoctoral Research Fellowship Innovation Grant · 2024
“In 2024, he received a Postdoctoral Research Fellowship Innovation Grant from the American Foundation for Suicide Prevention”
National Institute on Mental Health · active
“currently funded by the National Institute on Mental Health”
Department of Veterans Affairs · active
“the Department of the Veterans Affairs”
+2 more on the lab page
Source: lab pages
14 platforms and techniques
Analyzes
electronic health records, genome-wide expression studies, brain imaging phenotypes, metabolomic data, wearable device data, multi-omics analyses
Techniques
genome-wide association studies, Mendelian randomization, machine learning, genetically informed causal inference, natural language processing, polygenic risk scoring, clinical trial emulation, phenome-wide association studies
Source: lab pages
Currently hiring
“We are always looking forward to recruiting enthusiastic and curious scientists.”
Source: lab positions page
Poster
Thu Oct 22
4:15 pm
Genetically Informed Drug Repurposing to Identify Novel Therapeutics for Gulf War Illness
Complex Traits and Polygenic Disorders
Collaborators: VA Connecticut Healthcare System, Michael E. DeBakey VA Medical Center +2 more
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
Complex Traits and Polygenic Disorders
Collaborators: VA Connecticut Healthcare System, Baylor College of Medicine +1 more
BioinformaticsClinical geneticsComplex diseasesElectronic health records
Tucci Lab @ Yaletuccilab.org
Wet + dry lab~11 people
Uses genome-wide sequencing of DNA from present-day and ancient humans. Reconstructs past demographic events and human adaptation.
5 papers since 2024
Long-term isolation and archaic introgression shape functional genetic variation in Near Oceania
Science, 2026
Ancient DNA analyses of remains of the Medici family (16th century) provide insights into the genetic variation of Plasmodium falciparum
iScience, 2026
Supplemental data from: Long-term isolation and archaic introgression shape functional genetic variation in Near Oceania
Zenodo (CERN European Organization for Nuclear Research), 2026
Source: OpenAlex author A5064509628
6 platforms and techniques
Techniques
genome-wide sequencing, ancient DNA analysis, bioinformatics, ancient DNA extraction, population genetics, computational biology
Source: lab pages
Currently hiring
“We are looking for postdocs and graduate students to work with us on many exciting projects!”
Source: lab positions page
No funding stated
Poster
Thu Oct 22
4:15 pm
Admixture and selection shape patterns of genetic variation at the FADS locus in Oceanic populations
Evolutionary and Population Genetics
Collaborators: Temple University, Papua New Guinea Institute of Medical Research
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 Oceania
Evolutionary and Population Genetics
Collaborators: Binghamton University, Temple University
Natural selectionPopulation geneticsGene regulationGenomics
Zhou Labmedicine.yale.edu/lab/hang-zhou
Dry lab~4 people
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.
60 papers since 2024
Mapping the genetic landscape across 14 psychiatric disorders
Nature, 2025
Genome-wide analyses identify 30 loci associated with obsessive–compulsive disorder
Nature Genetics, 2025
Multi-ancestry meta-analysis of tobacco use disorder identifies 461 potential risk genes and reveals associations with multiple health outcomes
Nature Human Behaviour, 2024
Source: OpenAlex author A5043951146
Funded by NIH, NIAAA +2 more
NIAAA, R01 · 09/10/2025
The NIH's standard multi-year research project grant.
“R01 09/10/2025 National Award NIAAA”
NIDA, R21 · 06/01/2025
“R21 06/01/2025 National Award NIDA”
Yale School of Medicine, Annual Pilot Award, Yale Center for the Translational Neuroscience of Alcoholism · 05/01/2025
“Annual Pilot Award 05/01/2025 Yale School of Medicine Award Yale Center for the Translational Neuroscience of Alcoholism”
+1 more on the lab page
Source: lab pages
9 platforms and techniques
Analyzes
SNP array, Whole-exome sequencing, Whole-genome sequencing
Techniques
Genome-wide association studies, Variant calling, quality control and annotation, Functional prediction, Causal variant fine-mapping, Single-variant and gene-based collapsing analyses, Multi-omics integration
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
Multi-Ancestry Whole-Genome Sequencing Study of Tobacco Use Disorder Across Biobanks
Complex Traits and Polygenic Disorders
Collaborators: University of Pennsylvania
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
Evolutionary and Population Genetics
Collaborators: University of Pennsylvania
Genetic variationGenome-wide association studyPopulation geneticsPsychiatric genetics
Jiang Labmedicine.yale.edu/lab/jiang
Wet lab~7 people
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.
46 papers since 2024
Proximity analysis of native proteomes reveals phenotypic modifiers in a mouse model of autism and related neurodevelopmental conditions
Nature Communications, 2024
Efficient EEG Feature Learning Model Combining Random Convolutional Kernel with Wavelet Scattering for Seizure Detection
International Journal of Neural Systems, 2024
Maternal adiposity and perinatal and offspring outcomes: an umbrella review
Nature Human Behaviour, 2024
Source: OpenAlex author A5056945892
Funded by NIH
NIH, Phase 2 of NIH Somatic Genome Editing Consortium · active
“We have recently received a large NIH grant as a part of Phase 2 of NIH Somatic Genome Editing Consortium.”
Source: lab pages
11 platforms and techniques
Runs
Stimuli-responsive Traceless Engineering Platform (STEP), CRISPR/Cas9 epigenome editing, Cas9- and dCas9-based editors
Techniques
Patient-derived iPSCs, Brain organoids, Mutant mice, CRISPR/Cas9 genome editing, Optogenetics, Behavioral neuroscience, Whole-genome sequencing, Synaptic physiology
Source: lab pages
Currently hiring
“The Jiang Laboratory in the Departments of Genetics and Neuroscience at Yale University is seeking highly motivated candidates for a postdoctoral position.”
Source: lab positions page
Talk
Wed Oct 21
2:19 pm
Brain-wide non-viral genome editing for Angelman syndrome using STEP-RNP delivery in non-human primates
Advances in Clinical Genomics in the Era of AI, Long-Read Sequencing, Precision Medicine, and Genomic Care Delivery
Collaborators: Foundation for Angelman Syndrome Therapeutics
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 Primates
Genetic Therapies and Precision Medicine
Collaborators: Foundation for Angelman Syndrome Therapeutics
Brain/nervous systemGene therapyGenome editing/CRISPRNeurodevelopmental
Cheng Labhcheng-lab.github.io/team
Dry lab~6 people
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.
26 papers since 2024
Complex genetic variation in nearly complete human genomes
Nature, 2025
Scalable telomere-to-telomere assembly for diploid and polyploid genomes with double graph
Nature Methods, 2024
Scalable, accessible and reproducible reference genome assembly and evaluation in Galaxy
Nature Biotechnology, 2024
Source: OpenAlex author A5044987443
10 platforms and techniques
Analyzes
Nanopore Simplex, Hi-C
Techniques
de novo genome assembly, haplotype-resolved assembly, read alignment, variant calling, string indexing, pangenome analysis, sketching, graph theory
Source: lab pages
Currently hiring
“We are seeking PhD and MS students passionate about developing computational algorithms for genome analysis.”
Source: lab positions page
No funding stated
Poster
Fri Oct 23
2:30 pm
UniPhase: Joint Assembly-Based and Population-Level Haplotype Phasing
Omics Technologies
HaplotypeLong-read sequencingPopulation geneticsLinkage disequilibrium
Computational Biology and Biomedical Informaticscbb.yale.edu/faculty-labs
Dry lab~69 people
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.
Funded by National Library of Medicine
National Library of Medicine, Biomedical Informatics Research Training Grant · active
“Biomedical Informatics Research Training Grant from the National Library of Medicine”
Source: lab pages
12 platforms and techniques
Analyzes
Genomics, Proteomics, Electronic health records, Biosensors, Imaging technologies, Medical claims and clinical datasets
Techniques
Large-scale database development, Data mining, Machine learning, High-performance computing, Modeling biomedical and biophysical processes, Computer modeling of disease processes
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
Graph transformer inference links ligand-receptor signaling to target genes in spatial niches
Artificial Intelligence and Machine Learning
Collaborators: University of Minnesota
Artificial intelligenceBioinformaticsSingle-cellSpatial transcriptomics
Gerstein & Simon Labsimonlab.yale.edu/people
Wet + dry lab~11 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.
Funded by American Heart Association, Charles H. Revson Foundation +1 more
American Heart Association, Predoctoral Fellowship · April 2018
“Lea Kiefer receives the American Heart Association Predoctoral Fellowship!”
Charles H. Revson Foundation, Senior Fellowship in biomedical science · Jun 2016
“Martin Machyna receives the Charles H. Revson Senior Fellowship in biomedical science!”
National Science Foundation, Graduate Research Fellowship · Mar 2012
“Erin Duffy receives the NSF Graduate Research Fellowship.”
Source: lab pages
10 platforms and techniques
Works with
TimeLapse-seq, Start-TimeLapse-seq (STL-seq), NR-seq, CHART, Targeted Structure-Seq
Techniques
4-thiouridine metabolic labeling, Nucleotide recoding chemistry, Bayesian hierarchical modeling, Capture hybridization analysis of RNA targets, Methyl-lysine analogue incorporation
Source: lab pages
No openings posted
Poster
Thu Oct 22
4:15 pm
★ Reviewers’ Choice
Resolving Cis-Regulatory Variation Through Allele-Specific Analysis of High-Quality Human Genome Assemblies
Genetic, Genomic, and Epigenomic Resources and Databases
BioinformaticsCopy number/structural variationGenetic variationHaplotype
Koch Labthe-koch-lab.github.io
Dry lab~1 people
We develop population-genetic theory, statistical methods, and computational tools. Biobank GWAS enable analyses of genetic architecture.
6 papers since 2024
Hotspots of human mutation point to clonal expansions in spermatogonia
Nature, 2025
Deciphering the impact of genomic variation on function
Nature, 2024
Genetic association data are broadly consistent with stabilizing selection shaping human common diseases and traits
bioRxiv (Cold Spring Harbor Laboratory), 2024
Source: OpenAlex author A5072275014
5 platforms and techniques
Techniques
population-genetic theory, two-locus models, biobank GWAS, sequence-based predictors, functional assays
Source: lab pages
Currently hiring
“We are seeking researchers who want to develop and apply new methods for human genomic data.”
Source: lab positions page
No funding stated
Symposium
Wed Oct 21
8:15 am
Introduction
Human Mutational Processes Underlying Genomic Signatures, Cancer, and Evolution
Vaccarino Labmedicine.yale.edu/lab/vaccarino
Wet + dry lab~12 people
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.
32 papers since 2024
Single-cell genomics and regulatory networks for 388 human brains
Science, 2024
Single-cell multi-cohort dissection of the schizophrenia transcriptome
Science, 2024
A framework for neural organoids, assembloids and transplantation studies
Nature, 2024
Source: OpenAlex author A5020168218
Funded by National Institute of Mental Health
National Institute of Mental Health, Brain Somatic Mosaicism Network · active
“We are part of the Brain Somatic Mosaicism network, sponsored by the National Institute of Mental Health (NIMH).”
Source: lab pages
10 platforms and techniques
Analyzes
RNA-seq, single nuclei RNA-seq, ChIP-seq, ATAC-seq
Techniques
stem cell-derived brain organoids, iPSC derivation from skin fibroblasts, stereology, clonal population generation, organoid immunostaining, lentiviral infection
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
A comprehensive view of somatic mosaicism by single-cell DNA analysis
Genetic, Genomic, and Epigenomic Resources and Databases
Collaborators: European Bioinformatics Institute, Broad Institute +8 more
Gene environment interactionGenomicsMosaicismSingle-cell
Zhao Labzhaocenter.org/index.html
Dry lab~16 people
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.
246 papers since 2024
Mapping the genetic landscape across 14 psychiatric disorders
Nature, 2025
Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder
Nature Genetics, 2024
Twin-distortion modulated ultra-low coordination PtRuNi-Ox catalyst for enhanced hydrogen production from chemical wastewater
Nature Communications, 2024
Source: OpenAlex author A5074828414
12 platforms and techniques
Analyzes
single-cell RNA-seq, spatial transcriptomics, single-cell ATAC, whole-exome sequencing, whole-genome sequencing, bisulfite sequencing, electronic health records
Techniques
genome-wide association studies, polygenic risk scores, network reconstruction, Mendelian randomization, deep learning
Source: lab pages
No funding stated · No openings posted
Poster
Fri Oct 23
2:30 pm
Sparse Annotation-Informed Variable Selection via Spike-and-Slab Priors
Statistical Genetics and Genetic Epidemiology
Genome-wide association studyStatistical geneticsComplex traitsMathematical modeling
Zhi Lab Computational Genomics and Biomedical AIzhigroup.github.io
Dry lab~9 people
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.
75 papers since 2024
Deep learning model for personalized prediction of positive MRSA culture using time-series electronic health records
Nature Communications, 2024
Unsupervised deep representation learning enables phenotype discovery for genetic association studies of brain imaging
Communications Biology, 2024
iGWAS: Image-based genome-wide association of self-supervised deep phenotyping of retina fundus images
PLoS Genetics, 2024
Source: OpenAlex author A5012354604
Funded by NIH, NIH +3 more
NIH, U01 AG098387 · active
“NIH U01 AG098387”
NIH, R01LM014249 · active
The NIH's standard multi-year research project grant.
“NIH R01LM014249”
NIH, U01 AG070112-01A1 · 07/01/2021-06/30/2026
“Zhi, Fornage, Ji · 07/01/2021-06/30/2026”
+2 more on the lab page
Source: lab pages
10 platforms and techniques
Analyzes
Structured EHR diagnosis-code sequences, Brain MRI, Diffusion MRI white matter FA maps, Retinal imaging
Techniques
IBD detection, Genotype imputation, Pangenome graph indexing, Clinical representation learning, Unsupervised and self-supervised representation learning, Imaging-derived phenotype GWAS
Source: lab pages
Currently hiring
“We are recruiting postdoctoral researchers in computational genomics, clinical AI, and imaging genetics.”
Source: lab positions page
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
Artificial Intelligence and Machine Learning
Genome-wide association studyBrain/nervous systemLarge-scale biobanksDeep learning
Reilly Labreilly-lab.com/reillylab/team
Wet + dry lab~14 people
Builds CRISPR perturbation and MPRA tools and analyzes 1000 Genomes data for non-coding regulatory variation. Connects variants to human evolution, disease and traits.
Funded by The Pew Charitable Trusts, NIH/NHGRI +1 more
The Pew Charitable Trusts, Pew Scholars Program in the Biomedical Sciences · 2025; four years
“Reilly lab awarded as a 2025 Pew Biomedical Scholar. The Reilly lab was funded to design programmable, synthetic cis-regulatory elements.”
NIH/NHGRI, Pathway to Independence K99/R00 · active
“NIH/NHGRI Pathway to Independence, K99/R00 (HG010669)”
NIH/NHGRI, Ruth L. Kirschstein Postdoctoral Individual National Research Service Award · active
“Ruth L. Kirschstein Postdoctoral Individual National Research Service Award (HG009226)”
Source: lab pages
9 platforms and techniques
Runs
HCR-FlowFISH, Massively Parallel Reporter Assay (MPRA), Single-cell MPRA
Techniques
CRISPR perturbation, CASA Bayesian CRISPR analysis, Machine learning, Selection scans, Functional genomics, Synthetic cis-regulatory element design
Source: lab pages
Currently hiring
“We’re always looking for inquisitive, creative, and passionate researchers (post-docs, graduate students, RAs, undergrads) to join our team.”
Source: lab positions page
Moderator
Tue Oct 20
5:00 pm
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
Statistical Genetics and Genetic Epidemiology
Collaborators: Western Connecticut State University
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
Statistical Genetics and Genetic Epidemiology
Collaborators: King's College London, Icahn School of Medicine at Mount Sinai
Phenome-wide associationPolygenic risk scorePsychiatric geneticsWomen's health
2 more presenters — research group not yet identified

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