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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
About NHGRI
Established in 1989, NHGRI collaborates with the scientific and medical communities to catalyze genomic breakthroughs.
About NHGRI
The Genomics and Society Working Group advises on planning and priorities for genomics and society activities at NHGRI.
… In Genomics, Genomics Legislation, Privacy And Genomics, Genetic Information Non-discrimination Act (GINA) … The …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… genes linked to common recurrent fever in children How the genetic code was cracked, with paper and pencil and no …
About Genomics
An interactive timeline listing key moments from the history of the project.
… Project gave us the ability to read nature's complete genetic blueprint for a human. This interactive timeline … Huntingdon's disease, neurofibromatosis and other genetic disorders. More Francis Collins' Statement in … ahead of schedule. The goals include creating detailed genetic and physical maps, developing efficient strategies …
News Release
Today, we are updating the way we manage data related to the NIH Genomic Data Sharing Policy.
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… participants understand the prevalence and basis of genetic diseases in their nations and the associated public … understanding human health. The second video looks at the Genetic Information Nondiscrimination Act (GINA), the federal … that protects Americans from discrimination based on their genetic information in both health insurance and employment …
Policies and Guidance
Frequently Asked Questions regarding the Update to NIH Management of Genomic Summary Results Access.
… allele frequency information 1 and association analysis statistics 2 . An allele frequency is the proportion of a … or disease risks.  In genomics, association analysis statistics are the information generated when investigators … or protein expression levels). Examples of these kinds of statistics are: p-values, beta values in regression, odds …
News Release
Laura Koehly, Ph.D., has been named chief of NHGRI's Social and Behavioral Research Branch.
… attention deficit hyperactivity disorder (ADHD) and rare genetic conditions with a significant impact on affected … of explanations. She switched her major and studied statistics while maintaining an interest in the social … support. She also shared an office with newly-minted genetic counselor, Jill Sawyer, M.S., who was supporting a …
The Genomics Landscape
In the November 3, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., reflects on the important genomics legacy of the Human Heredity and Health in Africa (H3Africa) program as it comes to an end.
… in genomics and health sciences to understand the genetic and environmental contributions to health and disease … major African health challenges. This includes the use of genetic, clinical, and epidemiologic methods to identify …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… to develop new and more powerful ways to assess people’s genetic risk for developing various diseases. One approach … interpreted. The use of polygenic risk scores (also called genetic scoring and genetic risk scoring) is becoming more widespread both in the …