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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
News Release
Researchers have found powerful clues to why certain processes and systems in the mouse are so different from those in people.
… in Nature and in several other publications - examine the genetic and biochemical programs involved in regulating mouse … Ph.D., John Stamatoyannopoulos, M.D., mouse models for genetic research … Researchers have found powerful clues to …
News Release
NIH submits new policy that requires all NIH-funded investigators who conduct sensitive, health-related research be issued Certificates of Confidentiality.
… of Confidentiality. … 21st Century Cures Act, genetic privacy, genomic privacy, researchers and privacy, …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… and descriptions of people with the same condition and ancestry. … Previously, the only available diagnostic atlas … who are diagnosing and treating birth defects and genetic diseases in people of diverse ancestry." Congenital … on clinical genetics (the practice of medicine focused on genetic disorders) to a standing-room-only audience. …
News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… of West Africans, African Americans and others of African ancestry carry a genomic variant that increases their risk of … on obesity to date have been in people of European ancestry, despite an increased risk of obesity in people of … technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be …
The Genomics Landscape
In the August 2023 edition of The Genomics Landscape, NHGRI Director Eric Green introduces incoming NHGRI DEO Director, Jennifer Troyer.
… the best, … Polygenic scoring accuracy varies across the genetic ancestry continuum Ding et al. Nature . 2023 … that, she worked as a senior scientist at NCI developing genetic and genomic technologies. Dr. Troyer completed a …
News Release
Charles Rotimi, Ph.D., was awarded the Academy Medal for Distinguished Contributions in Biomedical Science by the New York Academy of Medicine. This honor, established in 1929, recognizes investigators with sustained and impactful accomplishments in biomedical research and an interest in translating these findings to advance human health.
… Medicine honors NHGRI Scientific Director for advances in genetic epidemiology and efforts to enhance the diversity of … with a focus on the African Americans and Africans. As a genetic epidemiologist and genomics researcher, Dr. Rotimi … data from admixed groups and individuals of African ancestry has enhanced approaches to finding genomic variants …
News Release
An international team of researchers including NIH has completed the first comprehensive characterization of genomic diversity across sub-Saharan Africa.
… to medical conditions in people of sub-Saharan African ancestry, and indicates that the migration from Africa in the … including malaria, Lassa fever and trypanosomiasis. The genetic variant frequency in populations from endemic and … complete sets of DNA, or genomes, of many people to find genetic variations associated with a particular disease. Once …
The Genomics Landscape
In the February 2, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about the new NIH Data Management and Sharing (DMS) Policy and how it emphasizes the importance of good data management practices.
… 2022. PMC9793425 One method for studying the ancestry of a human population involves the use of DNA from … Since NHGRI launched the Talking Glossary of Genomic and Genetic Terms in 1998, the resource has received over 18 … New approach successfully traces genomic variants back to genetic disorders Notable accomplishments in genomic medicine …
News Release
The Genomics and Society: Expanding the ELSI Universe conference focused on issues arising from the ethical, legal and social implications of genomic research.
… Communications and Public Liaison Branch … From prenatal genetic screening to the genetic testing of women with family histories of breast … Dean of Social Science at Columbia University on genes, ancestry and identity; Wylie Burke , Professor of Bioethics …
The Genomics Landscape
In the October 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes James Thomas as the new director for NIH Intramural Sequencing Center (NISC).
… tandem repeats. These types of repeats have been linked to genetic predispositions for certain cancers, and being able … contributes to disease and inform the development of new genetic testing methods. This research was funded by the … collaborations facilitated by NHGRI. … Genomics Research Genetic carriers for sickle cell disease have higher risks of …