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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… has conducted the first study of its kind to look at the genomic underpinnings of obesity in continental Africans and … African Americans and others of African ancestry carry a genomic variant that increases their risk of obesity, a … to search for regions of the genome that contain genomic variants associated with the condition. Most previous studies …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… study, researchers scan the genome to identify specific genomic variants associated with a disease. In this case, the … the genes are in the same pathway, so we know that the genomic variants affecting that pathway contribute to the …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… Institutes of Health are establishing which genes and genomic variants play a role in human disease, enabling their use in genomic medicine and research. NIH's Clinical Genome Resource …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… GSP aims to use genome sequencing to identify genes and genomic variants underlying human inherited disease across its full … structure, see: NIH genome sequencing program targets the genomic bases of common, rare disease . A brief history of …
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… data for the presence of possible actionable secondary variants. Any secondary variants found in the research data will be clinically …
15 Ways Genomics Influences Our World
​Genomics is helping us understand what makes each of us different and what makes us the same.
… Project, researchers began developing tools to detect genomic differences between people. When scientists agreed to … today, researchers are still discovering new types of variants  within human genomes. Human genomic variation is particularly important because a very …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… However, it is difficult to identify which sequence variants are relevant to disease. As a result, information on only a few genomic variants is used in clinical practice. One factor … are developing standard approaches for sharing genomic and phenotypic data provided by clinicians, …
Talking Glossary
A secondary genomic finding refers to a genomic variant, found through the analysis of a person’s genome, that is of potential medical value yet is unrelated to the initial reason for examining the person’s genome.
… Secondary Genomic Finding … A secondary genomic finding refers to a genomic variant, found through the analysis of a person’s …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… the status and opportunities surrounding the discovery of variants conferring risk for common disease. He said that one … and conditions are the epitome of personalized medicine." Genomic Medicine NHGRI supports several genomic medicine programs to explore the best ways to move …
News Release
Today, we are updating the way we manage data related to the NIH Genomic Data Sharing Policy.
… we are updating the way we manage data related to the NIH Genomic Data Sharing Policy to again allow unrestricted access to genomic summary results for most of the studies we support in … tool for helping researchers determine which genomic variants potentially contribute to a disease or disorder. … …