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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
Policy Issues
Revisions to the Common Rule modernize, simplify, and enhance oversight for human subjects research in the United States.
News Release
Today, we are updating the way we manage data related to the NIH Genomic Data Sharing Policy.
Explainer
Appropriate use of population descriptors in research is a critical scientific issue that is important for advancing genomic science and improving healthcare across human populations.
… three common population descriptors — race, ethnicity and genetic ancestry — which are often used to distinguish groups … the public on the distinctions between race, ethnicity and genetic ancestry, and to advance the use of population … group using a specific analytical approach, such as using statistics to look at the frequency of DNA variants across …
Policy Issues
There are laws and policies that serve to protect the privacy of individuals' genomic information.
… clinical applications or other uses. This page summarizes genetic and genomic privacy in these domains, along with … the specific laws and policies that protect the privacy of genetic and genomic information. In the United States, the … biopsies, can serve as excellent sources of samples for genetic and genomic research. For example, scientists can …
The Genomics Landscape
In the January 2025 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Erin Ramos as the new director of the Division of Genome Sciences (DGSci).
… We just updated our Talking Glossary of Genomic and Genetic Terms with several new entries, including genetic architecture , long-read DNA sequencing , and … hundreds of polygenic risk scores (PRSs), which are genetic tests that can be used to estimate a person’s risk of …
The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… apply computational approaches to analyze large sets of genetic and genomic data, with an emphasis on identifying the … The meeting also covered the roles that geneticists and genetic counselors may play in implementing population … how to apply. … Genomics Research NIH researchers create genetic atlas detailing early stages of zebrafish development …
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 …
The Genomics Landscape
In the December 2024 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the keynote speaker at the institute's annual symposium, Kate Rubins, a biologist and NASA astronaut who was the first person to sequence DNA in space.
… have formed a network called KwashNet to conduct the first genetic studies on the development of kwashiorkor. They hope … on the new webpage on genome.gov . …  November 14 was Genetic Counselor Awareness Day, a time to recognize genetic counselors and the vital work they do. For patients …
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 …