ASHG 2026 · Tier 1 Academic

Broad Institute at ASHG 2026

Cambridge, Massachusetts

Broad Institute at ASHG 2026 in Montréal: 54 presentations (36 posters, 9 platform talks, 5 featured symposia); 36 research groups.

54
presentations on the program
36
research groups identified
2
sessions invited to or moderated
7
Reviewers’ Choice abstracts

Explore everyone at ASHG 2026 →

OrganizationASHG 2026 Attendance
Broad Institute
Cambridge, Massachusetts
21 Staff Scientists · 11 Postdocs · 6 PIs · 1 PhD Student
Data Sciences Platformbroadinstitute.org/data-sciences-platform/dsp-team
Dry lab~7 people
Develops software and services for GATK, GVS, Terra, single-cell and multimodal sequencing data. Supports All of Us, AnVIL and HCA data platforms.
42 papers since 2024
The Somatic Mosaicism across Human Tissues Network
Nature, 2025
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
Source: OpenAlex author A5062762227
Funded by National Institutes of Health (NIH), National Human Genome Research Institute (NHGRI) +1 more
National Institutes of Health (NIH), All of Us Research Program · active
“All of Us Research Program: A National Institutes of Health (NIH)-funded initiative”
National Human Genome Research Institute (NHGRI), AnVIL · active
“AnVIL: NHGRI's Genomic Data Science Analysis, Visualization, and Informatics Lab-Space”
National Institutes of Health (NIH), BRAIN Initiative · active
“BICAN: An NIH BRAIN Initiative consortium”
Source: lab pages
11 platforms and techniques
Analyzes
GATK, GVS, Imputation Service, Picard, Single Cell Portal, Terra
Techniques
variant discovery, joint calling, variant filtering, genomic imputation, single-cell and multiomic data analysis
Source: lab pages
No openings posted
Talk
Thu Oct 22
11:00 am
Scaling mitochondrial variant calling in 30x short-read whole-genome sequencing for 535,000 All of Us Research Program participants
New Frontiers in Mitochondrial DNA Research
Computational toolsGenomicsMitochondriaSNP analysis/discovery
Poster
Thu Oct 22
4:15 pm
Establishing quality standards to facilitate creation of atlas-sized Perturb-seq datasets
Omics Technologies
Genome editing/CRISPRRNARNA-seqSingle-cell
Poster
Fri Oct 23
2:30 pm
Scaling population genomics to a million: the Genomic Variant Store as a cloud-native variant data management engine
Genetic, Genomic, and Epigenomic Resources and Databases
Large-scale biobanksBioinformaticsExome/genome sequencingComputational tools
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
Developing Fair and Interpretable AI Models for Precision Medicine in Pathogenic Variant Carriers with Proteomics Data
Artificial Intelligence and Machine Learning
Collaborators: Massachusetts General Hospital, Harvard University +1 more
DiagnosticsEthical, legal, and social implicationsMachine learningProteomics
Talk
Fri Oct 23
2:00 pm
Integrating 730,947 exomes with agentic clinical literature curation improves gene discovery
New Machine Learning Approaches in Genetics and Genomics
Collaborators: Cold Spring Harbor Laboratory
BioinformaticsDiagnosticsGenetic variationIdentification of disease genes
Poster
Fri Oct 23
2:30 pm
Mechanistic interpretation of missense variants using sparse representations from protein language models
Artificial Intelligence and Machine Learning
Variant interpretationDeep learningArtificial intelligence
Daly Labatgu.mgh.harvard.edu/organization/science-operations/page/3
Dry lab
Develops statistical methods and analyzes GWAS, exome-sequencing and genome-sequencing data for human-disease genetics. Focuses on autism, psychiatric, inflammatory bowel, autoimmune and diabetes genetics.
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
7 platforms and techniques
Analyzes
GWAS, whole-exome sequencing, genome sequencing
Techniques
linkage analysis, association analysis, integrative genomics, causal variant fine-mapping
Source: lab pages
No funding stated · No openings posted
Talk
Wed Oct 21
1:43 pm
Proteomic prediction of disease risk is specific to short-term disease incidence
Advances in Population Genetics, Genetic Epidemiology, and Omics
Complex diseasesHeritabilityProteomicsPolygenic risk score
Poster
Fri Oct 23
2:30 pm
★ Reviewers’ Choice
From 1 to X: The rare variant genetic architecture of autism
Complex Traits and Polygenic Disorders
Collaborators: Massachusetts General Hospital, Emory University +5 more
AutismComplex diseasesNeurodevelopmentalRare variants
Poster
Fri Oct 23
2:30 pm
★ Reviewers’ Choice
Proteomic prediction of disease risk is specific to short-term disease incidence
Statistical Genetics and Genetic Epidemiology
Complex diseasesHeritabilityPolygenic risk scoreProteomics
Claussnitzer Labbroadinstitute.org/diabetes/diabetes-team
Wet + dry lab~17 people
Studies diabetes genetics using human genetic and clinical data, single-cell imaging and transcriptomics, and cellular/animal models. Translates variants into mechanisms, treatment response, and clinical practice.
57 papers since 2024
A genome-wide atlas of human cell morphology
Nature Methods, 2025
Integrative proteogenomic analysis identifies COL6A3-derived endotrophin as a mediator of the effect of obesity on coronary artery disease
Nature Genetics, 2025
Multi-ancestry polygenic mechanisms of type 2 diabetes
Nature Medicine, 2024
Source: OpenAlex author A5044933633
Funded by Accelerating Medicines Partnership for Type 2 Diabetes, Merkin Institute +1 more
NIH, Director’s New Innovator Award · 2021
“a 2021 NIH Director’s New Innovator Award”
Accelerating Medicines Partnership for Type 2 Diabetes · active
“the Accelerating Medicines Partnership for Type 2 Diabetes, a public/private partnership that funds his group”
Merkin Institute, Merkin Institute Fellowship · active
“Neal is a recipient of a Merkin Institute Fellowship”
Source: lab pages
14 platforms and techniques
Works with
human genetic and clinical data, GWAS, single-cell imaging, single-cell transcriptomics, genomic editing methods, multi-omic readouts, imaging-based assays
Techniques
CRISPR-Cas9 mediated variant editing, organoid culture, single-cell sequencing, computational/machine learning, animal models, cellular models, GWAS
Source: lab pages
No openings posted
Symposium
Wed Oct 21
8:15 am
Introduction
Integrating AI and Knowledge Graphs for Human Genetics and Beyond: Innovations from the NIH Common Fund Data Ecosystem
Poster
Fri Oct 23
2:30 pm
Improving Multi-Gene eQTL Power with Single-Cell RNA-seq via Hurdle-Based Co-Expression Modeling
Statistical Genetics and Genetic Epidemiology
Collaborators: Massachusetts General Hospital, Center for Computational and Integrative Biology, Massachusetts General Hospital
BioinformaticsComplex traitsComputational toolsExpression quantitative trait loci
Huang Labhuanglab.ac
Dry lab~12 people
Develops statistical genetics methods using GWAS, exome-sequencing and whole-genome sequencing data. Applies them to schizophrenia and inflammatory bowel disease with PGC and IIBDGC.
58 papers since 2024
Mitochondrial complex I activity in microglia sustains neuroinflammation
Nature, 2024
Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder
Nature Genetics, 2024
Systems biology dissection of PTSD and MDD across brain regions, cell types, and blood
Science, 2024
Source: OpenAlex author A5026771827
Funded by National Institute of Diabetes and Digestive and Kidney Diseases, National Institute of Mental Health +4 more
National Institute of Diabetes and Digestive and Kidney Diseases · active
“National Institute of Diabetes and Digestive and Kidney Diseases”
National Institute of Mental Health · active
“National Institute of Mental Health”
Stanley Center for Psychiatric Research · active
“Stanley Center for Psychiatric Research”
+3 more on the lab page
Source: lab pages
11 platforms and techniques
Analyzes
GWAS / genome-wide SNP data, Genome-wide genotyping, Whole-exome sequencing, Whole-genome sequencing, High-density genotyping, NanoString code set
Techniques
Bayesian fine-mapping, Cross-ancestry polygenic risk prediction, Rare variant association studies, Admixture population methods, Structural and copy number variation analysis
Source: lab pages
Currently hiring
“We are looking for motivated candidates with backgrounds in mathematics, statistics, computational biology or related fields.”
Source: lab positions page
Talk
Wed Oct 21
11:00 am
Exome sequencing directly implicates 68 genes in inflammatory bowel disease
Rare Variants, Big Insights: Illuminating Human Disease Genetics
Collaborators: Massachusetts General Hospital
Gastrointestinal systemGenome-wide association studyIdentification of disease genesLinkage disequilibrium
Poster
Fri Oct 23
2:30 pm
Brain-bone crosstalk in schizophrenia-associated osteoporosis: From brain-centered therapy to brain-bone co-treatment
Genetic Therapies and Precision Medicine
Collaborators: Shanghai University of Traditional Chinese Medicine, Massachusetts General Hospital
Bone/joint abnormalitiesBrain/nervous systemComplex diseasesDiagnostics
Iqbal Labsites.google.com/iqballab.org/iqbal-lab/team/team-overview
Dry lab~12 people
Develops bioinformatics tools for genomics, transcriptomics, proteomics, structural biology, DNA-encoded library and HTS data. Applies them to mutation mechanisms and drug discovery.
159 papers since 2024
Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders
Scientific Reports, 2024
Activating Point Mutations in the MET Kinase Domain Represent a Unique Molecular Subset of Lung Cancer and Other Malignancies Targetable with MET Inhibitors
Cancer Discovery, 2024
Genomics 2 Proteins portal: a resource and discovery tool for linking genetic screening outputs to protein sequences and structures
Nature Methods, 2024
Source: OpenAlex author A5016850814
Funded by NIH/NLM, Leukemia Research Foundation
NIH/NLM, R01 · Jul–Aug, 2026
The NIH's standard multi-year research project grant.
“The first NIH/NLM R01”
Leukemia Research Foundation, New investigator award · Jul–Aug, 2026
“The Leukemia Research Foundation new investigator award”
Source: lab pages
16 platforms and techniques
Analyzes
DNA-encoded library (DEL) screening, High-throughput screening (HTS), Base editor (BE) mutagenesis screens, Massively-parallel functional genomic screens, ESM1v, ESM2, Protein Data Bank, AlphaFold databases
Techniques
Protein structural bioinformatics, Machine learning, Computational biophysics, All-atom molecular dynamics simulations, AlphaFold structure prediction, In silico saturation mutagenesis, Protein language model embeddings, Mutagenesis-readout clustering
Source: lab pages
Currently hiring
“Open Positions: 1 intern (part-time) specializing in machine learning and data science.”
Source: lab positions page
Poster
Wed Oct 21
2:30 pm
BE3D: a structure-guided framework for base editing tiling screens to uncover functional and disease-associated residues
Genetic Therapies and Precision Medicine
Collaborators: Harvard University
BioinformaticsComputational toolsGenome editing/CRISPRVariant interpretation
Poster
Thu Oct 22
4:15 pm
Human Proteome-wide Mechanistic Interpretation of Missense Variants through Protein Feature Enrichment Score
Molecular Effects of Genetic Variation
Collaborators: Mass General Brigham
BioinformaticsComputational toolsGenetic variationVariant interpretation
Neale Labnealelab.is
Dry lab~24 people
Develops statistical methods for GWAS, SNP arrays, WES, WGS and EHR data. Studies psychiatric disorders with UK Biobank and the Psychiatric Genomics Consortium.
83 papers since 2024
Genomics yields biological and phenotypic insights into bipolar disorder
Nature, 2025
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 A5015235673
16 platforms and techniques
Analyzes
SNP arrays, Whole-exome sequencing (WES), Whole-genome sequencing (WGS), RNA-seq, ExomeChip, PsychChip, Hail, LD Hub
Techniques
GWAS, Data harmonization and QC, LD Score regression, Genetic correlation, Polygenic risk scores, Mendelian randomization, Rare-variant association, Gene-environment interaction analysis
Source: lab pages
No funding stated · No openings posted
Poster
Thu Oct 22
4:15 pm
Scalable mapping of context-dependent eQTLs at single-cell resolution across immune cell states and disease-relevant perturbations
Statistical Genetics and Genetic Epidemiology
Collaborators: Garvan Institute of Medical Research
Expression quantitative trait lociGene environment interactionRNA-seqSingle-cell
Poster
Fri Oct 23
2:30 pm
Human-Cattle GWAS meta-analysis improves fine-mapping and gene-prioritization in dizygotic twinning
Statistical Genetics and Genetic Epidemiology
Collaborators: Vrije Universiteit Amsterdam, Massachusetts General Hospital +2 more
Reproductive geneticsStatistical geneticsPopulation geneticsMethodology
Talkowski Laboratorytalkowski.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
Thu Oct 22
1:30 pm
gnomAD-LR: A population-scale, long read reference resource for variant discovery and haplotype-resolved episignatures
Elucidating Structural Variation in Human Health and Disease
Collaborators: University of Washington, Massachusetts General Hospital +5 more
DatabasesGenetic variationLarge-scale biobanksLong-read sequencing
Talk
Sat Oct 24
9:45 am
Federated analyses yield almost 2 million structural variants from 147,994 genomes from the Genome Aggregation Database and the All of Us Research Program
Move Over SNPs: Structural Variants, Repeat Expansions, and More
Collaborators: Massachusetts General Hospital, Dana-Farber Cancer Institute +3 more
DatabasesComputational toolsCopy number/structural variationGenomics
AnVIL Programanvilproject.org
Dry lab~36 people
Runs genomic analysis on Terra, Bioconductor, Galaxy, Jupyter and 10x Genomics data. Hosts NHGRI consortia for shared, reproducible analysis.
Funded by NHGRI
NHGRI, Cooperative agreement awards #5U24HG010262 and #5U24HG010263 · active
“NHGRI supports AnVIL through cooperative agreement awards to the Broad Institute and Johns Hopkins University.”
Source: lab pages
17 platforms and techniques
Analyzes
Terra, Bioconductor, Galaxy, Jupyter, RStudio, Dockstore, GATK workflows, 10x Genomics v2/v3 assay
Techniques
whole-genome sequencing, whole-exome sequencing, RNA-Seq, PacBio HiFi sequencing, Oxford Nanopore ultra-long reads, single-cell RNA-seq, pangenomic assembly, polygenic risk scores, GWAS
Source: lab pages
No openings posted
Talk
Wed Oct 21
1:30 pm
The All of Us + AnVIL imputation service: The world's largest, most ancestrally diverse genomic reference panel for equitable variant discovery
Genetic Variation: From Catalogs to Consequences
Collaborators: Children's National, University of Washington
BioinformaticsGenome-wide association studyLarge-scale biobanksPolygenic risk score
Poster
Fri Oct 23
2:30 pm
★ Reviewers’ Choice
The All of Us + AnVIL imputation service: The world's largest, most ancestrally diverse genomic reference panel for equitable variant discovery.
Genetic, Genomic, and Epigenomic Resources and Databases
Collaborators: Children's National, University of Washington
BioinformaticsGenome-wide association studyLarge-scale biobanksPolygenic risk score
Data Sciences Platform (DSP)broadinstitute.org/data-sciences-platform/dsp-team
Dry lab~7 people
Develops software and services for GATK, GVS, Terra, single-cell and multimodal sequencing data. Supports All of Us, AnVIL and HCA data platforms.
42 papers since 2024
The Somatic Mosaicism across Human Tissues Network
Nature, 2025
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
Source: OpenAlex author A5062762227
Funded by National Institutes of Health (NIH), National Human Genome Research Institute (NHGRI) +1 more
National Institutes of Health (NIH), All of Us Research Program · active
“All of Us Research Program: A National Institutes of Health (NIH)-funded initiative”
National Human Genome Research Institute (NHGRI), AnVIL · active
“AnVIL: NHGRI's Genomic Data Science Analysis, Visualization, and Informatics Lab-Space”
National Institutes of Health (NIH), BRAIN Initiative · active
“BICAN: An NIH BRAIN Initiative consortium”
Source: lab pages
11 platforms and techniques
Analyzes
GATK, GVS, Imputation Service, Picard, Single Cell Portal, Terra
Techniques
variant discovery, joint calling, variant filtering, genomic imputation, single-cell and multiomic data analysis
Source: lab pages
No openings posted
Symposium
Wed Oct 21
8:15 am
Introduction
The All of Us Research Program At 10 Years: 500,000+ Genomes Advancing Precision Medicine
Symposium
Wed Oct 21
8:35 am
Increasing discovery potential by adding multi-omics to the All of Us Research Program dataset
The All of Us Research Program At 10 Years: 500,000+ Genomes Advancing Precision Medicine
Flannick Labflannicklab.org/people
Dry lab~21 people
Develops computational models for whole-genome, exome, GWAS and Hi-C data. Applies statistical genetics to diabetes, rare disease and drug-target discovery.
36 papers since 2024
Integrative proteogenomic analysis identifies COL6A3-derived endotrophin as a mediator of the effect of obesity on coronary artery disease
Nature Genetics, 2025
Rare coding variant analysis for human diseases across biobanks and ancestries
Nature Genetics, 2024
Genetic architecture and biology of youth-onset type 2 diabetes
Nature Metabolism, 2024
Source: OpenAlex author A5011512882
Funded by NIDDK, AMP-T2D +4 more
NIDDK, Common Metabolic Diseases Knowledge Portal · active
“Our flagship genomics knowledge portal, funded by the NIDDK and AMP-T2D.”
AMP-T2D, Common Metabolic Diseases Knowledge Portal · active
“Our flagship genomics knowledge portal, funded by the NIDDK and AMP-T2D.”
NHGRI, Association to Function Knowledge Portal · active
“Our disease agnostic genomics knowledge portal, a genomic community resource funded by the NHGRI.”
+3 more on the lab page
Source: lab pages
10 platforms and techniques
Analyzes
Whole-genome sequencing, Exome sequencing, Genome-wide association studies, SNP arrays, Hi-C maps, LIGER
Techniques
Rare and common variant association analysis, Bayesian inference, Polygenic scores, Soft clustering
Source: lab pages
Currently hiring
“We are always seeking bright and motivated students, trainees, or scientists at any career stage”
Source: lab positions page
Talk
Wed Oct 21
1:43 pm
Annotation-informed soft clustering of genome-wide association study signals identifies biologically interpretable factors and novel genes underlying type 2 diabetes heterogeneity
Decoding Genetic Risk Across Ancestry and Sex in Polygenic Disorders
Collaborators: Mass General Brigham, Boston Children's Hospital
DiabetesPolygenic risk scoreStatistical geneticsGenome-wide association study
Poster
Wed Oct 21
2:30 pm
★ Reviewers’ Choice
Annotation-informed soft clustering of genome-wide association study signals identifies biologically interpretable factors and novel genes underlying type 2 diabetes heterogeneity
Complex Traits and Polygenic Disorders
Collaborators: Mass General Brigham, Boston Children's Hospital
DiabetesGenome-wide association studyPolygenic 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
Talk
Wed Oct 21
2:23 pm
Genome-wide association studies of psychotic disorders in diverse African populations reveal shared and population-specific genetic risk
Decoding Genetic Risk Across Ancestry and Sex in Polygenic Disorders
Collaborators: Health Sciences University
Genome-wide association studyPolygenic risk score
Poster
Thu Oct 22
4:15 pm
★ Reviewers’ Choice
Genome-wide Association Studies of Psychotic Disorders in Diverse African Populations Reveal Shared and Population-Specific Genetic Risk
Complex Traits and Polygenic Disorders
Collaborators: Health Sciences University
Genome-wide association studyPolygenic risk score
Broad Clinical Labsbroadclinicallabs.org
Wet + dry lab~240 people
Generates and analyzes data from Illumina NovaSeq X Plus, PacBio Revio, 10x single-cell and Olink Explore HT. Supports research, clinical testing and clinical-trial projects.
Funded by NIH
NIH, All of Us Research Program · active
“As part of the NIH All of Us Research Program”
Source: lab pages
16 platforms and techniques
Runs
Illumina NovaSeq X Plus, PacBio Revio, 10x Single Cell Gene Expression, 10x Genomics Single Cell Multiome, Olink Explore HT assay, Oxford Nanopore PromethION, Element AVITI, Ultima Genomics UG 100
Techniques
PCR-free WGS, PCR-plus WGS, Circular consensus sequencing, RNA sequencing, Single-cell sequencing, Whole-exome sequencing, Liquid biopsy, Plasma proteomic profiling
Source: lab pages
No openings posted
Poster
Fri Oct 23
2:30 pm
Clinical Technical Validation of Pharmacogenomic STAR Allele and CYP2B6/CYP2D6 Targeted Callers for Whole Genome Sequencing
Laboratory Genetics and Genomics
Collaborators: Illumina, Massachusetts General Hospital
PharmacogenomicsExome/genome sequencingGenetic testingBioinformatics
Development Labmethodsdevlab.org
Wet + dry lab
Develops long-read RNA isoform sequencing, MAS-ISO-seq, Perturb-seq and single-cell RNA-seq methods. Uses them for cancer transcriptomics and billion-cell functional genomics.
4 papers since 2024
Proteotranscriptomic Dissection of Breast Cancer T Cell States Identifies CD103+ Tfh-derived Cytotoxic Cells Linked to Immunotherapy Response
Research Square, 2026
Abstract 495: Single-cell multiomic drug response profiling of PRISM-multiplexed cancer cell lines sequenced with SBX.
Cancer Research, 2026
Long-read RNA sequencing improves isoform and splicing outlier detection in whole blood from rare disease trios
medRxiv, 2026
Source: OpenAlex author A5107675132
11 platforms and techniques
Analyzes
Long-read RNA isoform sequencing, PacBio Iso-seq, Oxford Nanopore, Illumina short reads, 10x 3’ libraries
Techniques
MAS-ISO-seq, CTAT-LR-Fusion, marti, Perturb-seq, Probabilistic modeling, Single-cell transcriptomic foundation models
Source: lab pages
Currently hiring
“Our lab is always looking for talented and motivated researchers.”
Source: lab positions page
No funding stated
Talk
Sat Oct 24
10:00 am
Dissecting evolutionary and drug response dynamics in metastatic breast cancer via long-read single-cell transcript isoform, fusion, and mutation analysis
Cancer Under Pressure: Genomics of Therapy Response and Resistance
Collaborators: Garvan Institute of Medical Research, St Vincent's Clinic +4 more
Alternative splicingCancerLong-read sequencingSingle-cell
Erion-Barner Groupbroadinstitute.org/spatial-technology-platform/research
Wet lab
Develops high-throughput 3D imaging transcriptomics, light-sheet microscopy and multi-omic protein-labeling methods. Studies psychiatric disease mechanisms and pathology applications.
9 platforms and techniques
Runs
10X Xenium, Vizgen MERSCOPE, STARMAP, mesoSPIM light-sheet microscopy
Techniques
3D imaging transcriptomics, Protein labeling with imaging transcriptomics, Optogenetics, Light-sheet microscopy, 3D pathology imaging
Source: lab pages
Currently hiring
““feel free to browse our open positions or reach out to stpcareers@broadinstitute.org.” — https://www.broadinstitute.org/technology-areas/spatial-technology-platform/join-team”
Source: lab positions page
No funding stated
Poster
Fri Oct 23
2:30 pm
Whole-transcriptome, large-area profiling of developing human ovaries and uterus with in situ spatial transcriptomics
Omics Technologies
Collaborators: Children's Hospital of Philadelphia
Spatial transcriptomicsDevelopmentReproductive genetics
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
Fri Oct 23
2:30 pm
A Common CD36 Variant and the Genetic Landscape of Dilated Cardiomyopathy in Individuals of African Ancestry
Complex Traits and Polygenic Disorders
Collaborators: University of Pennsylvania, The Ohio State University +3 more
BioinformaticsCardiovascular systemClinical geneticsEvolutionary genetics
Farhi Groupbroadinstitute.org/spatial-technology-platform/research
Wet lab
Develops high-throughput 3D imaging transcriptomics, light-sheet microscopy and multi-omic protein-labeling methods. Studies psychiatric disease mechanisms and pathology applications.
9 platforms and techniques
Runs
10X Xenium, Vizgen MERSCOPE, STARMAP, mesoSPIM light-sheet microscopy
Techniques
3D imaging transcriptomics, Protein labeling with imaging transcriptomics, Optogenetics, Light-sheet microscopy, 3D pathology imaging
Source: lab pages
Currently hiring
““feel free to browse our open positions or reach out to stpcareers@broadinstitute.org.” — https://www.broadinstitute.org/technology-areas/spatial-technology-platform/join-team”
Source: lab positions page
No funding stated
Poster
Thu Oct 22
4:15 pm
Assessment of high-scale quality control methods for spatial transcriptomic analysis
Omics Technologies
Spatial transcriptomicsFISH
Finucane Labfinucanelab.org/people-1
Dry lab~3 people
Develops statistical and computational methods integrating genetic, molecular and functional data. Analyzes UK Biobank, GTEx and complex-trait data for fine-mapping and gene prioritization.
10 papers since 2024
Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects
Nature Genetics, 2025
Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects
medRxiv, 2024
Convergence of coronary artery disease genes onto endothelial cell programs
Nature, 2024
Source: OpenAlex author A5021444806
4 platforms and techniques
Techniques
Fine-mapping, Gene prioritization, Polygenic risk scores, GWAS summary-statistics analysis
Source: lab pages
No funding stated · No openings posted
Poster
Wed Oct 21
2:30 pm
Systematic estimation of binding affinity effects for disease-associated missense variants at ligand-binding sites
Molecular Effects of Genetic Variation
Collaborators: Massachusetts General Hospital
Rare variantsVariant interpretationComputational toolsProtein structure
gnomAD methods Teamgnomad.broadinstitute.org
Dry lab
Analyzes exome and genome sequencing data with Hail, principal-component analysis and random-forest methods. Supports rare-disease diagnosis and variant interpretation.
10 papers since 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
Quantifying constraint in the human mitochondrial genome
Nature, 2024
Source: OpenAlex author A5076691105
8 platforms and techniques
Analyzes
exome sequencing, genome sequencing, Hail
Techniques
principal component analysis, random forest classification, joint genotyping, variant quality control and filtering, variant annotation with VEP
Source: lab pages
No funding stated · No openings posted
Poster
Wed Oct 21
2:30 pm
Identifying pathogenic tandem repeat expansions at novel loci in short-read and long-read rare disease datasets
Genetic, Genomic, and Epigenomic Resources and Databases
Mendelian disorderMethodologyNeurodevelopmentalGenomics
Hacohen Labhacohenlab.mgh.harvard.edu
Wet + dry lab~33 people
Develops genome-wide CRISPR, optical pooled screening and single-cell transcriptomic methods. Studies human tumor immunity, sepsis, autoimmunity and innate immune circuits.
109 papers since 2024
A neoantigen vaccine generates antitumour immunity in renal cell carcinoma
Nature, 2025
Human lung cancer harbors spatially organized stem-immunity hubs associated with response to immunotherapy
Nature Immunology, 2024
The aged tumor microenvironment limits T cell control of cancer
Nature Immunology, 2024
Source: OpenAlex author A5048859270
Funded by NIH, NIH/NIAID +2 more
NIH, R01AI158495 and U19AI133524 · active
The NIH's standard multi-year research project grant.
“This study was supported by NIH grants R01AI158495 and U19AI133524 (N.H.)”
NIH/NIAID, 1R01AI158495 · active
The NIH's standard multi-year research project grant.
“one grant from NIH/NIAID to N.H. (1R01AI158495)”
NIH NIAID, U24 AI118668 · active
“This work was supported by NIH NIAID U24 AI118668 (to N.H. and P.C.B.).”
+1 more on the lab page
Source: lab pages
12 platforms and techniques
Runs
Optical pooled screening, Genome-wide CRISPR libraries, FACS-based screens, Imaging-based screens, Single-cell transcriptomic profiles, Proximity ligation proteomics
Techniques
Machine-learning-enhanced computer vision phenotyping, Single-cell long-read sequencing, Same-cell multimodal methods, Mouse models, Neoantigen prediction, Cellular and molecular analysis of biopsies
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
Optimising Ex Vivo Tumour Explants for Spatial Transcriptomic Profiling
Omics Technologies
Collaborators: Massachusetts General Hospital, Mass General Brigham +2 more
CancerSpatial transcriptomics
Koyama Lab | Human Genetics and Personalized Medicinekoyama-lab.org
Dry lab~9 people
Analyzes whole-genome sequencing, GWAS, RVAS and biobank health data. Develops polygenic risk scores for cardiometabolic disease and precision prevention.
80 papers since 2024
Integrative proteomic analyses across common cardiac diseases yield mechanistic insights and enhanced prediction
Nature Cardiovascular Research, 2024
Rare coding variant analysis for human diseases across biobanks and ancestries
Nature Genetics, 2024
Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience
Nature Genetics, 2024
Source: OpenAlex author A5010690225
Funded by NIH/NHLBI, NIH/NHLBI +3 more
NIH/NHLBI, Pathway to Independence Award (R00) · 04/2026-Present
“NIH/NHLBI Pathway to Independence Award (R00), R00HL169733 / PI”
NIH/NHLBI, Pathway to Independence Award (K99) · 09/2023-03/2026
“NIH/NHLBI Pathway to Independence Award (K99), K99HL169733 / PI”
The Uehara Memorial Foundation · 04/2023-08/2023
“The Uehara Memorial Foundation / PI”
+2 more on the lab page
Source: lab pages
10 platforms and techniques
Analyzes
Whole-genome sequencing, Exome-wide association study, Genome-wide association studies (GWAS), Phenome-wide GWAS, Quantitative trait GWAS
Techniques
Rare-variant aggregation studies (RVAS), Polygenic risk scores, Statistical fine-mapping, Whole-genome sequence interpretation, Pathogenic-variant interpretation
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
Rare and common variant analyses in diverse populations identify population-specific signals and candidate drug target genes
Laboratory Genetics and Genomics
Collaborators: Boston University
BioinformaticsCandidate geneExome/genome sequencingLarge-scale biobanks
Mercader Labmercaderlab.mgh.harvard.edu/our-team
Dry lab~8 people
Analyzes whole-genome, whole-exome, RNA-seq, multi-omics and biobank data. Develops ancestry-aware variant interpretation, polygenic risk scores and precision medicine for type 2 diabetes.
56 papers since 2024
Genetic drivers of heterogeneity in type 2 diabetes pathophysiology
Nature, 2024
Multi-ancestry polygenic mechanisms of type 2 diabetes
Nature Medicine, 2024
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes
Nature Genetics, 2024
Source: OpenAlex author A5101966760
Funded by NIH, NIH +4 more
NIH, R01DK140545; Massive-scale Genomic Association Data To Inform Precision Medicine In Diabetes · 2025 – 2030
The NIH's standard multi-year research project grant.
“Massive-scale Genomic Association Data To Inform Precision Medicine In Diabetes | R01DK140545 (NIH) | 2025 – 2030”
NIH, U01 DK140757; GEMS-T2D · 2024 – 2029
“Generation and assessment of Multi-omic informed Subtypes of Type 2 Diabetes in Diverse Populations (GEMS-T2D) | U01 DK140757 (NIH) | 2024 – 2029”
NIH, R01 DK137993 · 2024 – 2029
The NIH's standard multi-year research project grant.
“Cataloging multi-ancestry ‘omic readouts of the environmental and genetic determinants of type 2 diabetes | R01 DK137993 (NIH) | 2024 – 2029”
+3 more on the lab page
Source: lab pages
11 platforms and techniques
Analyzes
whole-genome sequencing, whole-exome sequencing, RNA-seq
Techniques
GWAS, eQTL mapping, polygenic risk scores, colocalization, machine learning, Mendelian randomization, TOPMed imputation, rare variant analysis
Source: lab pages
No openings posted
Poster
Thu Oct 22
4:15 pm
★ Reviewers’ Choice
Boosting ancestry representation in large-scale meta-analyses improves rare variant interpretation in monogenic diabetes genes.
Complex Traits and Polygenic Disorders
Collaborators: Wellcome Sanger Institute, The University of Tokyo +4 more
Complex diseasesGenome-wide association studyLarge-scale biobanksRare variants
O'Donnell-Luria Labodonnell-luria-lab.com/our-team
Dry lab~19 people
Analyzes short-read genomes, long-read genomes, RNA-seq, proteomics and gnomAD data. Improves rare-disease diagnosis, variant interpretation and gene discovery.
5 papers since 2024
P593: Piloting the forthcoming ACMG/AMP/CAP/ClinGen standards for sequence variant classification
Genetics in Medicine Open, 2026
P583: Exploring the unknown: Resolving undiagnosed rare disease cases using long-read genome sequencing and epigenetics
Genetics in Medicine Open, 2026
O61: Improving variant classification for genomic medicine through evidence calibration
Genetics in Medicine Open, 2026
Source: OpenAlex author A5128147190
Funded by NIH
NIH, Rare Genomes Project · 2023-2025
“2023-2025: Siwaar Abouhala was a Clinical Research Coordinator working on the Rare Genomes Project (RGP), an NIH-funded, direct-to-patient genome sequencing study.”
Source: lab pages
15 platforms and techniques
Analyzes
short-read genome sequencing, long-read genome sequencing, RNA-seq, exome sequencing, whole-genome sequencing, proteomics, nanopore sequencing
Techniques
rare variant interpretation, rare disease gene discovery, incomplete penetrance analysis, variant classification, gene-disease curation, structural-variation analysis, constraint metrics, genetic prevalence estimation
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
Alternative transcripts harbor pathogenic variants in rare disease patients
Mendelian Phenotypes
Collaborators: Boston Children's Hospital, Harry Perkins Institute of Medical Research +2 more
Clinical geneticsDiagnosticsExome/genome sequencingMendelian disorder
Project Ex Vivoexvivo.broadinstitute.org
Wet + dry lab~27 people
Generates single-cell and spatial transcriptomics datasets and builds AI models for tumor-microenvironment states. Builds ex vivo cancer models for precision-oncology therapy selection.
49 papers since 2024
Mechanisms of Resistance to Oncogenic KRAS Inhibition in Pancreatic Cancer
Cancer Discovery, 2024
Cancer tissue of origin constrains the growth and metabolism of metastases
Nature Metabolism, 2024
Scalable, compressed phenotypic screening using pooled perturbations
Nature Biotechnology, 2024
Source: OpenAlex author A5066983733
6 platforms and techniques
Runs
single-cell transcriptomics, spatial transcriptomics
Techniques
AI models, patient-derived spheroid models, patient-derived organoid models, high-throughput functional genomic screening
Source: lab pages
No funding stated · No openings posted
Poster
Wed Oct 21
2:30 pm
Defining Transcriptional Phenotypes and Spatial Organization in Cholangiocarcinoma
Omics Technologies
Collaborators: Dana-Farber Cancer Institute
CancerTranscriptomeSpatial transcriptomicsSingle-cell
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
9:07 am
Co-creating genetics education resources matched to autism community contexts
Autism Genetics: Integrating Biological Insights with Societal Impacts
Translational Analysis Group (TAG)github.com/broadinstitute/TAG-public
Dry lab
Develops and validates computational workflows for genomic sequencing, WGS, CMA, and Illumina DRAGEN. Applies them to reliable clinical reporting and patient care.
14 platforms and techniques
Analyzes
Terra, Dockstore, Illumina DRAGEN, Whole-genome sequencing (WGS), Whole-exome sequencing (WES), Chromosome microarray (CMA), Custom panel sequencing, UMI-based duplex sequencing
Techniques
Clinical workflow development and validation, CNV calling, Somatic copy-number variant calling, Somatic structural variant calling, Cohort-based filtering, UMI-aware deduplication
Source: lab pages
No funding stated · No openings posted
Poster
Wed Oct 21
2:30 pm
VARium: a large-scale synthetic genome collection for multi-platform SV benchmarking
Genetic, Genomic, and Epigenomic Resources and Databases
Copy number/structural variationDatabasesLong-read sequencing
Tumor Immunotherapy Discovery Engine (TIDE)mangusolab.org/tide
Wet + dry lab~23 people
Runs in vivo CRISPR screens in mouse models across genes and immunotherapies. Uses functional genomics and single-cell profiling to discover cancer-immunotherapy resistance mechanisms and targets.
12 platforms and techniques
Works with
In vivo CRISPR screen platform, RNA-seq, Single-cell profiling of clinical tumor specimens, CRISPR antigen-removal lentiviral vector system
Techniques
In vivo genetic screening, Mouse models, Cellular immunology, Functional genomics, NSG mice, Immune checkpoint blockade therapy, Antigen presentation in MHC, Single-cell profiling
Source: lab pages
No funding stated · No openings posted
Poster
Wed Oct 21
2:30 pm
Direct comparison of CRISPR knockout and interference with Perturb-seq
Omics Technologies
Genome editing/CRISPRSingle-cellRNA-seqMulti-omics
Udler Teamudlerlab.org
Dry lab~19 people
Analyzes genetic variation and patient genomic data from UK Biobank, Mass General Brigham Biobank and All of Us. Studies diabetes subtypes through RADIANT.
91 papers since 2024
Genetic drivers of heterogeneity in type 2 diabetes pathophysiology
Nature, 2024
Multi-ancestry polygenic mechanisms of type 2 diabetes
Nature Medicine, 2024
Effective interventions in preventing gestational diabetes mellitus: A systematic review and meta-analysis
Communications Medicine, 2024
Source: OpenAlex author A5062262355
Funded by Doris Duke Charitable Foundation
Doris Duke Charitable Foundation · 2022
“Lab receives funding from the Doris Duke Charitable Foundation”
Source: lab pages
6 platforms and techniques
Techniques
Genetic risk scores, Genetic loci clustering, Multi-omics analysis, Pharmacogenomics, EHR algorithms, Whole-genome sequencing
Source: lab pages
Currently hiring
“We are hiring”
Source: lab positions page
Poster
Fri Oct 23
2:30 pm
★ Reviewers’ Choice
Clustering of polygenic risk profiles identifies genetically distinct T2D subtypes with divergent cardiometabolic risk
Complex Traits and Polygenic Disorders
Collaborators: Vanderbilt University, Albert Einstein College of Medicine +2 more
Clinical geneticsDiabetesPrecision medicine
Zhou Labwzhoulab.com
Dry lab~8 people
Develops statistical methods for large-scale biobank, EHR-linked genomic and single-cell RNA-seq data. Studies genetic risk, disease progression and molecular mechanisms.
93 papers since 2024
Altering the Metastable Wear Performance of Metallic Glasses via Mixing Entropy Regulation
Advanced Functional Materials, 2025
Recent advances on additive manufacturing of heterogeneous/gradient metallic materials via laser powder bed fusion
International Journal of Extreme Manufacturing, 2025
Achieving excellent mechanical and robust lubrication behavior in the CoCrNi medium-entropy alloy via in-situ graphite
Carbon, 2024
Source: OpenAlex author A5038934795
8 platforms and techniques
Analyzes
single-cell RNA-seq
Techniques
GWAS and PheWAS, rare variant association analysis, survival association analysis, single-cell eQTL mapping, polygenic risk prediction, local-ancestry-aware genetic analysis, multi-omics integration
Source: lab pages
Currently hiring
“We are inviting applications for two postdoctoral fellows.”
Source: lab positions page
No funding stated
Talk
Thu Oct 22
9:15 am
Maximizing genetic association power across the ancestry continuum in large-scale biobanks and cohorts
From Labels to Landscapes: Leveraging Local Ancestry and the Ancestry Continuum to Maximize Cross-Ancestry Association
Collaborators: Massachusetts General Hospital, Baylor College of Medicine +4 more
BioinformaticsComputational toolsGenome-wide association studyMathematical modeling
Broad-based ClinGen biocuration Teamthe-tgg.squarespace.com/team
Dry lab~11 people
Curates gene, variant and disease-ontology data for ClinGen and Matchmaker Exchange. Supports clinical genomics through expert panels and curation standards.
27 papers since 2024
The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation
Genetics in Medicine, 2024
HGVS Nomenclature 2024: improvements to community engagement, usability, and computability
Genome Medicine, 2024
Implementation of a dyadic nomenclature for monogenic diseases
The American Journal of Human Genetics, 2024
Source: OpenAlex author A5021940035
Funded by NIH
NIH, ClinGen · active
“The Clinical Genome Resource (ClinGen) is a NIH-funded program.”
Source: lab pages
11 platforms and techniques
Analyzes
Clinical Genome Resource (ClinGen), Matchmaker Exchange, ClinGen Data Platform, Whole-genome testing, Panel-based testing
Techniques
Gene curation, Variant curation, Disease ontologies, Expert-panel curation, Gene-disease association curation, Genomic data standards
Source: lab pages
No openings posted
Moderator
Fri Oct 23
4:30 pm
Common Fund Data Ecosystem (CFDE)commonfund.nih.gov/dataecosystem
Research group.
Symposium
Wed Oct 21
9:10 am
REVEAL: AI-enabled synthesis of genetics and mechanism in the Common Fund Data Ecosystem
Integrating AI and Knowledge Graphs for Human Genetics and Beyond: Innovations from the NIH Common Fund Data Ecosystem
Stanley Center for Psychiatric Research
Works in population genetics and computational genetics.
Talk
Thu Oct 22
11:00 am
Developmental splicing dynamics across human and non-human primate tissues in dGTEx and NHP-dGTEx
Pivoting from Gene-Level Analyses to Isoform-Resolved Biology
Collaborators: KTH Royal Institute of Technology, Barcelona Supercomputing Center +4 more
Alternative splicingDevelopmentRNA-seq
Poster
Thu Oct 22
4:15 pm
Transcriptomic impact of polygenicity: a pipeline to interrogate aggregate trait- and tissue-specific expression effects
Complex Traits and Polygenic Disorders
Complex traitsPolygenic risk scorePsychiatric geneticsTranscriptome
Ardlie Lab
Works in reproductive and prenatal genetics.
Poster
Wed Oct 21
2:30 pm
Spatial transcriptomic mapping of human testicular development across postnatal maturation
Prenatal, Perinatal, Reproductive, and Developmental Genetics
Collaborators: Children's Hospital of Philadelphia
DevelopmentDifferentiationGene regulationSequencing technology
Broad Institute CVSi
Works in population genetics.
Poster
Wed Oct 21
2:30 pm
GPC-M: a causal mediation framework for per-SNP cross-phenotype analysis under horizontal pleiotropy
Statistical Genetics and Genetic Epidemiology
Collaborators: Hanoi School Of Public Health, Mass General Brigham
Complex traitsGenome-wide association studyGenotype-phenotype correlationsSNP analysis/discovery
Karczewski and Neale groups
Research group.
Poster
Wed Oct 21
2:30 pm
Missense predictors exhibit different performance depending on selection regime, gene, and trait
Molecular Effects of Genetic Variation
Collaborators: Massachusetts General Hospital, Harvard University
Computational toolsIdentification of disease genesSNP analysis/discoveryPsychiatric genetics
Long Reads Group
Works in population genetics and clinical genetics.
Talk
Thu Oct 22
8:45 am
Haplotype-resolved genomics at biobank scale in ~12,500 participants from the All of Us Research Program
The Long and Short of It: Long-Read Genomics from Biobanks to the Clinic
Collaborators: Johns Hopkins University, University of Washington +6 more
Copy number/structural variationGenome-wide association studyLarge-scale biobanksLong-read sequencing
3 more presenters — research group not yet identified

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