Government agencies and non-profits at ASHG 2026

Oct 20–24, 2026 Montréal, Canada ~7.5k attendees Website

61 government agencies and non-profits are at ASHG 2026 — 160 presentations on the program and 10 with a booth in the exhibit hall. Most represented: National Human Genome Research Institute (42 on the program), National Institutes of Health (17 on the program), National Cancer Institute (16 on the program). 15 of them have their own page in this guide. As of Sep 25, 2026.

All 1,062 organizations at ASHG 2026 →

Scientific focus
Top represented
Showing 1–1 of 61 organizations
OrganizationASHG 2026 Attendance
10 Staff Scientists · 7 PIs · 5 Postdocs · 2 Clinicians
Booth
Exhibiting at Booth 208
Wed, Oct 219:45am–4:30pmThu, Oct 229:45am–1:30pmFri, Oct 239:45am–4:30pm
Genomics of Autoimmune Rheumatic Disease Sectiongenome.gov/…
Dry lab~9 people
Studies genetic ancestry, whole-blood DNA methylation and single-cell RNA-seq in SLE. Uses patient cohorts and multi-omics to study disease heterogeneity and health disparities.
14 papers since 2024
›
Epigenetic attenuation of interferon signaling is associated with aging-related improvements in systemic lupus erythematosus
Science Translational Medicine, 2025
The All of Us Research Program is an opportunity to enhance the diversity of US biomedical research
Nature Medicine, 2024
Changes in DNA methylation are associated with systemic lupus erythematosus flare remission and clinical subtypes
Clinical Epigenetics, 2024
Source: OpenAlex author A5082388906
Funded by Office of Autoimmune Disease Research, Office of Research on Women’s Health, NIH, NIH
›
Office of Autoimmune Disease Research, Office of Research on Women’s Health, NIH, Intramural Collaborative Research Awards · 2025
“Meet the Recipients of the 2025 Office of Autoimmune Disease Research Intramural Collaborative Research Awards”
NIH, Diversity supplement R01 · 2020
The NIH's standard multi-year research project grant.
“Dr Lanata received the NIH Diversity supplement R01 award (2020)”
Source: lab pages
7 platforms and techniques
›
Analyzes
Whole-blood DNA methylation, Single-cell RNA-seq
Techniques
Population genomics, Integrative multi-omics, Genome-wide association studies, Epigenome-wide association studies, Transcriptomic analysis
Source: lab pages
No openings posted
Poster
Fri Oct 23
2:30 pm
Clonal Hematopoiesis of Indeterminate Potential (CHIP) somatic mutations are associated with late age of onset and epigenetic remodeling in systemic lupus erythematosus (SLE)
Collaborators: University of California, Berkeley, Vanderbilt University
Autoimmune disorderEpigenome-wide association studiesMethylationMosaicism
Poster
Fri Oct 23
2:30 pm
DNA methylation profiles are associated with geographically distinct immune-related signatures in systemic lupus erythematosus patients from Peru and the United States
Collaborators: National Institute of Arthritis and Musculoskeletal and Skin Diseases, University of California, San Francisco +3 more
Autoimmune disorderGenomicsPopulation geneticsMethylation
NIH Undiagnosed Diseases Program (UDP)genome.gov/Current-NHGRI-Clinical-Studies/NIH-Undiagnosed-Diseases-Program
Wet + dry lab~35 people
Uses family genome sequencing, SNP-array testing, methylation testing and RNA-sequencing to investigate undiagnosed disease. Advances rare disease diagnostics and medical knowledge about rare and common diseases.
62 papers since 2024
›
Rare diseases: challenges and opportunities for research and public health
Nature Reviews Disease Primers, 2024
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
The Journal of Experimental Medicine, 2024
A deep intronic splice–altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion
Science Translational Medicine, 2024
Source: OpenAlex author A5082442398
Funded by NIH Common Fund, Multiple NIH Institutes and Centers
›
Multiple NIH Institutes and Centers, UDN Phase III · active
“will continue to receive support and oversight from multiple NIH Institutes and Centers”
NIH Common Fund, Undiagnosed Diseases Network · 2013-2022
“The UDN was funded by the NIH Common Fund from 2013-2022.”
Source: lab pages
8 platforms and techniques
›
Runs
Family genome sequencing, SNP-array testing, Methylation testing, RNA-sequencing
Techniques
Patient phenotyping, Genomic variant analysis pipelines, Functional evidence for variant causality, Rare-disease data sharing
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
Patterns of Undiagnosed Diseases over 18 Years
DiagnosticsGenomicsClinical geneticsClinical testing
Poster
Fri Oct 23
2:30 pm
Structural variants in SETX contribute to the long diagnostic odyssey of individuals with spinocerebellar ataxia with axonal neuropathy 2
Collaborators: Massachusetts General Hospital
AtaxiaCopy number/structural variationLong-read sequencingMendelian disorder
Childhood Complex Disease Genomics Sectiongenome.gov/…
Wet + dry lab~18 people
Uses whole genome sequencing, genomics, epigenomics and transcriptomics with well-phenotyped cohorts. Studies childhood diseases with global collaborators through CAfGEN and H3Africa.
22 papers since 2024
›
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser
Genome Medicine, 2025
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
Nature Communications, 2025
Admix-kit: an integrated toolkit and pipeline for genetic analyses of admixed populations
Bioinformatics, 2024
Source: OpenAlex author A5064153770
Funded by NIH, Wellcome Trust +1 more
›
NIH, H3Africa Consortium · active
“project funded by the NIH, Wellcome Trust, and African Academy of Sciences (AAS)”
Wellcome Trust, H3Africa Consortium · active
“project funded by the NIH, Wellcome Trust, and African Academy of Sciences (AAS)”
African Academy of Sciences, H3Africa Consortium · active
“project funded by the NIH, Wellcome Trust, and African Academy of Sciences (AAS)”
Source: lab pages
7 platforms and techniques
›
Analyzes
Whole genome sequencing
Techniques
Genomic, epigenomic and transcriptomic technologies, Population and quantitative genetics, Functional characterization, Functional hepatocyte model, Trans- and local-ancestry admixture mapping, Knockout mice
Source: lab pages
No openings posted
Center for Genomics and Data Science Researchgenome.gov/about-nhgri/Division-of-Intramural-Research/Center-for-Genomics-and-Data-Science-Research
Wet + dry lab~9 people
Analyzes long-read sequencing and whole-genome data, and runs CRISPR, oligo synthesis and yeast genetics. Studies genome function, variation and disease.
71 papers since 2024
›
Complete sequencing of ape genomes
Nature, 2025
The variation and evolution of complete human centromeres
Nature, 2024
High-quality metagenome assembly from long accurate reads with metaMDBG
Nature Biotechnology, 2024
Source: OpenAlex author A5086869042
10 platforms and techniques
›
Works with
Whole-genome sequencing, PacBio long-read sequencing, Oxford Nanopore (ONT) long-read sequencing, Large-scale oligo synthesis
Techniques
Genome assembly, Comparative genomics, CRISPR-Cas9, Genome engineering, High-throughput yeast screening, Yeast genetics
Source: lab pages
Currently hiring
›
“The Intramural Research Program of the National Human Genome Research Institute (NHGRI) at the National Institutes of Health is seeking a postdoc”
Source: lab positions page
No funding stated
Poster
Wed Oct 21
2:30 pm
Sex differences in placental gene expression and intraplacental variation in normotensive versus hypertensive pregnancies
Collaborators: Flinders University, Valleywise Health
Reproductive geneticsRNA-seqTranscriptomeX-linked disease
Center for Research on Genomics and Global Healthgenome.gov/about-nhgri/Center-for-Research-on-Genomics-and-Global-Health
Wet + dry lab~16 people
Generates genotyping, biomarker and gene-expression data with Sequenom, DMET, Bio-Plex and Affymetrix platforms. Studies metabolic disorders and health disparities in African and African American populations.
42 papers since 2024
›
Subcontinental genetic variation in the All of Us Research Program: Implications for biomedical research
The American Journal of Human Genetics, 2025
Genetic drivers of heterogeneity in type 2 diabetes pathophysiology
Nature, 2024
An approach to identify gene-environment interactions and reveal new biological insight in complex traits
Nature Communications, 2024
Source: OpenAlex author A5083621501
13 platforms and techniques
›
Runs
ELISA kits, Bio-Plex Suspension Array System, Sequenom technology, Affymetrix DMET chip, BIO-RAD MyiQ, GeneChip Human genome U133 array, QIAGEN EZ1 instrument
Techniques
genetic epidemiology, population genetics, RT-PCR, whole genome amplification, shotgun proteomics, whole exome sequencing
Source: lab pages
No funding stated · No openings posted
Poster
Wed Oct 21
2:30 pm
Gene–Smoking Interaction Analysis Link SKAP2-Associated Immune Regulatory Pathways to Central Adiposity–Related Mortality Risk
Collaborators: Capital Medical University
Expression quantitative trait lociGene environment interactionGenome-wide association studyObesity
Poster
Fri Oct 23
2:30 pm
Single Nucleus RNA Sequencing of an Aldh7a1 Knockout Mouse Model Reveals Cell-Specific Effects on Energy Metabolism and Glucose Homeostasis Pathways
Collaborators: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Complex diseasesDiabetesObesitySingle-cell
Extramural Research Program (ERP)genome.gov/about-nhgri/Organizational-chart
Funds and manages programs involving genome sequencing and analytical approaches. Supports universities, research institutes and commercial entities.
Funded by NHGRI, NIH +1 more
›
NHGRI, Extramural Research Program appropriated funds · active
“Stewards of the majority of NHGRI’s appropriated funds, ERP staff guide the use of this money”
NIH, R01 · active
The NIH's standard multi-year research project grant.
“with a focus on R01 and R21 awards”
NIH, R21 · active
“with a focus on R01 and R21 awards”
Source: lab pages
No openings posted
Organic Acid Research Sectiongenome.gov/…
Wet + dry lab~12 people
Studies methylmalonic acidemia with AAV vectors, 13C isotopomer metabolism, mouse and zebrafish models, and patient cohorts. Develops gene therapies and evaluates renal and neurologic disease.
29 papers since 2024
›
Adeno-Associated Virus Gene Therapy Development: Early Planning and Regulatory Considerations to Advance the Platform Vector Gene Therapy Program
Human Gene Therapy, 2025
Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology
Molecular Psychiatry, 2024
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation
JCI Insight, 2024
Source: OpenAlex author A5036918304
10 platforms and techniques
›
Runs
AAV vectors, 13C isotopomer metabolism, Ion abrasion scanning electron microscopy, RNA profiling, Lenti- and adenovirus-mediated gene delivery
Techniques
Gene therapy, Mouse models, Zebrafish modeling, Roundworm models, Natural-history clinical studies
Source: lab pages
No funding stated · No openings posted
Poster
Wed Oct 21
2:30 pm
Long-term morbidity and mortality following solid organ transplantation in mmut-methylmalonic acidemia
Natural historyMetabolic disorderGenotype-phenotype correlationsBiochemical pathology
Poster
Fri Oct 23
2:30 pm
Exploring the role of MCEE function in intermediary metabolism using zebrafish models
Collaborators: Kennedy Krieger Institute
Cellular metabolismComplex diseasesDevelopmentMetabolic disorder
Venditti Labirp.nih.gov/pi/charles-venditti
Wet lab~12 people
Runs patient natural-history studies, mouse and zebrafish models, AAV gene therapy, RNA profiling and 13C isotopomer metabolism. Focuses on methylmalonic acidemia and cobalamin disorders.
29 papers since 2024
›
Adeno-Associated Virus Gene Therapy Development: Early Planning and Regulatory Considerations to Advance the Platform Vector Gene Therapy Program
Human Gene Therapy, 2025
Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology
Molecular Psychiatry, 2024
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation
JCI Insight, 2024
Source: OpenAlex author A5036918304
10 platforms and techniques
›
Runs
AAV vectors, 13C isotopomer metabolism, Ion abrasion scanning electron microscopy, RNA profiling, Lenti- and adenovirus-mediated gene delivery
Techniques
Gene therapy, Mouse models, Zebrafish modeling, Roundworm models, Clinical natural-history studies
Source: lab pages
No funding stated · No openings posted
Poster
Thu Oct 22
4:15 pm
Natural History Study Reveals Putative Biochemical-Clinical Correlations in Adenylosuccinate Lyase Deficiency
Collaborators: Uniformed Services University of the Health Sciences
Biochemical pathologyMetabolic disorder
Poster
Fri Oct 23
2:30 pm
Exploring the methylmalonylome in neuronal and renal tissue in methylmalonic acidemia
Biochemical pathologyMetabolic disorderMolecular pathophysiology
Center for Research on Genomics and Global Health (CRGGH)genome.gov/about-nhgri/Center-for-Research-on-Genomics-and-Global-Health
Wet + dry lab~16 people
Generates genotyping, biomarker and gene-expression data with Sequenom, DMET, Bio-Plex and Affymetrix platforms. Studies metabolic disorders and health disparities in African and African American populations.
42 papers since 2024
›
Subcontinental genetic variation in the All of Us Research Program: Implications for biomedical research
The American Journal of Human Genetics, 2025
Genetic drivers of heterogeneity in type 2 diabetes pathophysiology
Nature, 2024
An approach to identify gene-environment interactions and reveal new biological insight in complex traits
Nature Communications, 2024
Source: OpenAlex author A5083621501
13 platforms and techniques
›
Runs
ELISA kits, Bio-Plex Suspension Array System, Sequenom technology, Affymetrix DMET chip, BIO-RAD MyiQ, GeneChip Human genome U133 array, QIAGEN EZ1 instrument
Techniques
genetic epidemiology, population genetics, RT-PCR, whole genome amplification, shotgun proteomics, whole exome sequencing
Source: lab pages
No funding stated · No openings posted
Division of Genomics and Societygenome.gov/about-nhgri/Division-of-Genomics-and-Society
~6 people
Coordinates multidisciplinary ELSI research and training on genetic and genomic research. Addresses societal issues with individuals, families and communities.
20 papers since 2024
›
Associations of one-carbon metabolism, related B-vitamins and ApoE genotype with cognitive function in older adults: identification of a novel gene-nutrient interaction
BMC Medicine, 2025
A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels
Blood, 2024
Vitamin B12 status and folic acid supplementation influence mitochondrial heteroplasmy levels in mice
PNAS Nexus, 2024
Source: OpenAlex author A5088033476
Funded by NIH, NIH +3 more
›
NIH, NIH Research Project Grant (Parent R01 Clinical Trial Not Allowed) · 2025-2027; expiration January 8, 2028
The NIH's standard multi-year research project grant.
“This page lists active Notices of Funding Opportunity (NOFOs); NIH Research Project Grant (Parent R01 Clinical Trial Not Allowed); Expiration Date: January 8, 2028”
NIH, NIH Research Project Grant (Parent R01 Clinical Trial Required) · 2025-2027; expiration January 8, 2028
The NIH's standard multi-year research project grant.
“This page lists active Notices of Funding Opportunity (NOFOs); NIH Research Project Grant (Parent R01 Clinical Trial Required); Expiration Date: January 8, 2028”
NIH, NIH Exploratory/Developmental Research Project Grant (Parent R21 Clinical Trial Not Allowed) · 2025-2027; expiration January 8, 2028
“This page lists active Notices of Funding Opportunity (NOFOs); NIH Exploratory/Developmental Research Project Grant (Parent R21 Clinical Trial Not Allowed); Expiration Date: January 8, 2028”
+2 more on the lab page
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
Center for Precision Health Researchgenome.gov/Current-NHGRI-Clinical-Studies/Genomic-Services-Research-Program
Wet + dry lab~11 people
Develops genomic and informatic tools using UK Biobank, genotype/phenotype databases and electronic healthcare datasets. Supports rare-disease care, genetic-disorder trials and NIH Clinical Center studies.
41 papers since 2024
›
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria
Genetics in Medicine, 2025
The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation
Genetics in Medicine, 2024
Implementation of a dyadic nomenclature for monogenic diseases
The American Journal of Human Genetics, 2024
Source: OpenAlex author A5110682336
11 platforms and techniques
›
Runs
ClinSeq®, Whole-genome sequencing, Massively parallel sequencing, Transcriptome sequencing, Nuclear exome sequencing
Techniques
Reverse phenotyping, Post-hoc phenotyping, Positional cloning, Genotype-phenotype correlations, Animal models, In vitro studies
Source: lab pages
No funding stated · No openings posted
Poster
Thu Oct 22
4:15 pm
Piloting the v4 ACMG/AMP/ClinGen pathogenicity criteria on RYR1-MHS variant classification: Impact of weighting population data, case information and segregation
Collaborators: University of Basel, University of Leeds +3 more
Laboratory genetics and genomicsPharmacogenomicsPrecision medicineVariant interpretation
Genomic Functional Analysis Sectiongenome.gov/…
Dry lab~8 people
Analyzes Illumina DNA methylation arrays plus transcriptomic and chromatin data to study gene regulation in cancer and genetic disease. Develops blood-based cancer biomarkers.
12 papers since 2024
›
A dual role of Cohesin in DNA DSB repair
Nature Communications, 2025
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
Genome biology, 2024
Cortico-striatal differences in the epigenome in attention-deficit/ hyperactivity disorder
Translational Psychiatry, 2024
Source: OpenAlex author A5081017740
Funded by NHGRI, Ruth L. Kirschstein National Research Service Award (F32)
›
NHGRI, ENCODE 4 · February 2017
“NHGRI funded the fourth phase of ENCODE (ENCODE 4) in February 2017”
Ruth L. Kirschstein National Research Service Award (F32)
“completed a postdoctoral fellowship in computational genomics through the prestigious Ruth L. Kirschstein National Research Service Award (F32)”
Source: lab pages
5 platforms and techniques
›
Analyzes
Illumina DNA methylation arrays
Techniques
Transcript isoform analysis, Splicing-network analysis, DNA methylation biomarker development, Chromatin-dynamics analysis
Source: lab pages
No openings posted
Poster
Fri Oct 23
2:30 pm
Building a staged cell-free DNA methylation and fragmentomics workflow for cancer screening and tumor tissue-of-origin prediction using EM-seq datasets
Collaborators: Johns Hopkins University, National Institute of Environmental Health Sciences
CancerEpigeneticsMachine learningMethylation
Metabolic Medicine Branchgenome.gov/research-at-nhgri/Investigators
Wet lab~5 people
Runs AAV-vector, mouse, zebrafish, organoid and stem-cell studies alongside clinical metabolic research. Develops treatments for organic acidemias, mitochondrial disorders and skeletal dysplasias.
29 papers since 2024
›
Adeno-Associated Virus Gene Therapy Development: Early Planning and Regulatory Considerations to Advance the Platform Vector Gene Therapy Program
Human Gene Therapy, 2025
Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology
Molecular Psychiatry, 2024
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation
JCI Insight, 2024
Source: OpenAlex author A5036918304
16 platforms and techniques
›
Runs
AAV vectors, Lenti- and adenovirus-mediated gene delivery, 13C isotopomer metabolism, Ion abrasion scanning electron microscopy, MR spectroscopy, Metabolomics, mRNA profiling, Proteomics
Techniques
Gene addition therapy, Gene editing, Stem-cell models, Organoid models, Zebrafish models, Mouse models, Immune-activation animal models, Natural-history clinical studies
Source: lab pages
No funding stated · No openings posted
Reproductive Cancer Genetics Sectiongenome.gov/…
Wet lab~6 people
Studies endometrial-tumor exomes and somatic mutations identified by next-generation sequencing. Functionally evaluates driver genes in clinically aggressive endometrial cancer.
5 papers since 2024
›
Proteomic Changes Associated With Endogenous FBXW7 Mutations in Moderately Differentiated Endometrial Cancer Cells Include Increased TROP2 and Galectin‐3 Levels
Cancer Medicine, 2025
The endometrial cancer A230V-ALK5 (TGFBR1) mutant attenuates TGF-β signaling and exhibits reduced in vitro sensitivity to ALK5 inhibitors
PLoS ONE, 2024
64P Evaluating gene alterations associated with recurrence in oral cavity squamous cell carcinoma
ESMO Open, 2024
Source: OpenAlex author A5046992202
7 platforms and techniques
›
Analyzes
whole-exome sequencing, next-generation sequencing
Techniques
molecular approaches, biochemical approaches, cellular approaches, functional annotation of somatic mutations, TGF-beta pathway mutation analysis
Source: lab pages
No funding stated · No openings posted
Poster
Fri Oct 23
2:30 pm
Permanent neurological sequelae associated with fluoroquinolone exposure: A case series
Collaborators: University of Washington
PharmacogenomicsCharacterization of disordersGene environment interactionClinical history
UDP Translational Laboratorygenome.gov/Current-NHGRI-Clinical-Studies/NIH-Undiagnosed-Diseases-Program
Wet + dry lab~35 people
Uses family genome sequencing, SNP-array testing, methylation testing and RNA-sequencing to investigate undiagnosed disease. Advances rare disease diagnostics and medical knowledge about rare and common diseases.
62 papers since 2024
›
Rare diseases: challenges and opportunities for research and public health
Nature Reviews Disease Primers, 2024
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
The Journal of Experimental Medicine, 2024
A deep intronic splice–altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion
Science Translational Medicine, 2024
Source: OpenAlex author A5082442398
Funded by NIH Common Fund, Multiple NIH Institutes and Centers
›
Multiple NIH Institutes and Centers, UDN Phase III · active
“will continue to receive support and oversight from multiple NIH Institutes and Centers”
NIH Common Fund, Undiagnosed Diseases Network · 2013-2022
“The UDN was funded by the NIH Common Fund from 2013-2022.”
Source: lab pages
8 platforms and techniques
›
Runs
Family genome sequencing, SNP-array testing, Methylation testing, RNA-sequencing
Techniques
Patient phenotyping, Genomic variant analysis pipelines, Functional evidence for variant causality, Rare-disease data sharing
Source: lab pages
No openings posted
Division of Genome Sciencesgenome.gov/about-nhgri/Division-of-Genome-Sciences
~21 people
Supports genomic technology, RNA-seq and ChIP-seq programs. Builds shared resources for gene regulation, developmental expression and genomic variation.
Funded by National Human Genome Research Institute (NHGRI), Eunice Kennedy Shriver National Institute for Child Health and Human Development (NICHD) +4 more
›
National Human Genome Research Institute (NHGRI), human dGTEx · active
“The human Developmental Genotype-Tissue Expression (dGTEx) project is co-funded by the National Human Genome Research Institute (NHGRI)”
Eunice Kennedy Shriver National Institute for Child Health and Human Development (NICHD), human dGTEx · active
“the Eunice Kennedy Shriver National Institute for Child Health and Human Development (NICHD)”
National Institute of Neurological Disorders and Stroke (NINDS), human dGTEx · active
“the National Institute of Neurological Disorders and Stroke (NINDS)”
+3 more on the lab page
Source: lab pages
8 platforms and techniques
›
Techniques
whole exome sequencing, RNA-seq, CRISPR base editing, single-cell multiomics, massively parallel reporter assays, in situ Hi-C, ChIP-seq, organoids
Source: lab pages
No openings posted
Division of Genomic Medicinegenome.gov/about-nhgri/Division-of-Genomic-Medicine
~11 people
Plans and facilitates multidisciplinary genomic-medicine research through grants, training grants and contracts. Advances genomic data use in diagnosis, treatment and prevention of disease.
13 papers since 2024
›
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
Nature Medicine, 2024
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
The Journal of Experimental Medicine, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
The American Journal of Human Genetics, 2024
Source: OpenAlex author A5089568993
Funded by NHGRI, NHGRI +2 more
›
NHGRI, Advancing Genomic Medicine Research through Small Businesses · active
“Notice of Special Interest (NOSI): Advancing Genomic Medicine Research through Small Businesses”
NHGRI, Small Business Solutions to Assist Genomics-Enabled Learning Health Systems · active
“Notice of Special Interest: Small Business Solutions to Assist Genomics-Enabled Learning Health Systems (gLHS)”
NHGRI, Small Business Solutions to Enable Regional Genomic Medicine eConsult Services · active
“Notice of Special Interest: Small Business Solutions to Enable Regional Genomic Medicine eConsult Services”
+1 more on the lab page
Source: lab pages
No openings posted
Office of the Directorgenome.gov/about-nhgri/Office-of-the-Director
~4 people
Oversees genomic data science and coordinates genomic research for NIH. Provides NHGRI leadership, policy, administration, and management strategy.
1 paper since 2024
›
Deciphering the impact of genomic variation on function
Nature, 2024
Source: OpenAlex author A5043367098
No funding stated · No openings posted
Precision Health Informatics Section
Works in rare disease and population genetics.
Talk
Thu Oct 22
1:30 pm
Thiazide diuretics are associated with reduced risk of incident dementia: A phenomic-genomic study in All of Us, Mount Sinai Million, and UK Biobank
Collaborators: Icahn School of Medicine at Mount Sinai, University of Oxford +4 more
Alzheimer’s diseaseCardiovascular systemLarge-scale biobanksPharmacogenomics
Poster
Thu Oct 22
4:15 pm
Phenome and genome-guided discovery of Mendelian contributors to treatment-resistant hypertension in All of Us
Clinical geneticsComplex traitsElectronic health recordsLarge-scale biobanks
Comparative Genomics and Reproductive Health Section
Works in computational genetics.
Poster
Wed Oct 21
2:30 pm
Chromosome level assemblies define the utility and limits of short read Y chromosome analyses
Collaborators: The Jackson Laboratory for Genomic Medicine, Masaryk University +11 more
Variant callingMethodologyCopy number/structural variationChromosomal structure/function
Precision Genomics Section
Works in rare disease and clinical genetics.
Undiagnosed Diseases Program
Works in rare disease.
8 more presenters — research group not yet identified

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