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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
News Release
Diverse populations are still underrepresented in public genomic databases, according to a new study by researchers from the NIH and Harvard Medical School.
… Precision medicine will largely be built on vast troves of genomic information, but diverse populations are still … the Genome-Wide Association Study Catalog (GWAS) and the database of Genotypes and Phenotypes (dbGaP). Findings were … specify inclusion standards or justification for lack of diversity as a requirement for publication. Implementation of …
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
An international team of researchers including NIH has completed the first comprehensive characterization of genomic diversity across sub-Saharan Africa.
… has completed the first comprehensive characterization of genomic diversity across sub-Saharan Africa. The region is the most … diverse in the world, yet few studies have looked into genomic risk factors for disease in Africa. … The study …
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 . …
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 …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… of the central challenges in biology is understanding how genomic variation affects genome function to influence … multiple funding opportunities to establish the Impact of Genomic Variation on Function (IGVF) Consortium , the … of Directors from 2015-18 and currently serving on the Diversity and Inclusion Task Force. Dr. Rotimi will be …
News Release
North Asians may be more closely related to Eastern and Northern Europeans than previously thought.
… to a new genomics study in Nature Genetics . … New Genomic Data The international team of researchers, including … genetic variation data. "Until now, there has been little genomic information from the peoples of North Asia," said … selected Mongolians currently included in the Human Genome Diversity Panel , while some Northern European populations …