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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 …
Research Funding
The ELSI Publications and Products Database organizes publications for ELSI projects and activities by the last name of the principle investigator.
… materials. Many of these products are included in this database (updates are still in progress). However, there are … with older grants. … The ELSI Publications and Products Database organizes the publications for all ELSI projects and … publication? Many of these products are included in this database (updates are still in progress). However, there are …
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
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
NIH awards more than $64 million to for a database of human cellular responses called the Library of Integrated Network-based Cellular Signatures or LINCS.
… than $64 million to six research institutions to create a database of human cellular responses, the Library of … This would enable researchers to simply query the database in order to learn the effect of blocking or … Drug Administration's (FDA) Adverse Event Reporting System database to identify drugs that produce adverse events in …
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 …