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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… Resource  under their recent Public Human Genetic Variant Database guidance. This program is part of an FDA effort  to … research and to develop an expert-curated collection of genomic variant pathogenicity information. ClinGen also … curation approaches and aim to ensure that ancestry and diversity are adequately addressed in the resource. … The …
The Genomics Landscape
In the February 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Genome Statute and Legislation Database, which recently received a major revamp to help researchers, policy analysts, and the public more easily find state-level legislation related to genomics.
… All the best,  … Building a vertically integrated genomic learning health system: The biobank at the Colorado … Colorado; that grant is part of the Investigator-Initiated Genomic Medicine Research Program ( PAR-18-735 ). …  As … in 2014, NHGRI created the Genome Statute and Legislation Database (GSLD) , which recently received a major revamp to …
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… traits), syndrome, continental region of residence and genomic/molecular diagnosis. The need for the tool became … implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… ancestral groups substantially improves identification of genomic variants associated with blood lipid levels. … In a … ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood … Health.   … Sarah E. Graham et al. The power of genetic diversity in genome-wide association studies of lipids . …
Research Funding
Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement approaches to integrating extant genotype and phenotype data for the purpose of conducting and disseminating Consortium-wide PRS analyses.
… Southern California** David Conti*, John Witte Leveraging Diversity in Cancer Epidemiology Cohorts and Novel Methods to … Optimize the integration of large-scale, harmonized genomic and phenotype data.  Starting June 2021, the seven … integration and analysis will occur largely on NHGRI's Genomic Data Science Analysis, Visualization, and Informatics …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… traits), syndrome, continental region of residence and genomic and molecular diagnosis. Previously, the only …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… trait. People with sickle cell trait have one copy of the genomic variant that causes sickle cell disease, a genetic …
News Release
NIH will fund grants totaling $38 million over five years to develop methods that will improve the way that polygenic risk scores can be used to predict disease in diverse communities.
… calculate polygenic risk scores by comparing the genomic data of people with and without a particular disease. … populations. The new consortium, called PRIMED , will pool genomic information from existing and new datasets to develop … populations. Researchers have used available large-scale genomic datasets to develop the ability to calculate …
News Release
The NHGRI Short Course in Genomics brings the latest genomics science to the classroom.
… outreach, Carla Easter, Christina Daulton, Belen Hurle, diversity in genomics workforce … The NHGRI Short Course in …