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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
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… earlier health interventions for people with West African ancestry. … A study from researchers at National Institutes … (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people from Ghana … African countries, where many African Americans derive genetic ancestry . Studying how these genomic variants …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… and blood clots have only included individuals of African genetic ancestry and self-identified Black participants because of the incorrect assumption that the genetic carrier state only affects those who identify as …
Event
The NHGRI Education and Community Involvement Branch is co-hosting a webinar on January 9 with the Undergraduate Genetics Education Network that will explore the changing landscape of genetics from a largely descriptive field and emerging creative fields.
… can your students expect to see as genetics and genetic engineering grow into a new variety of research and …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate … the researchers designed questions about 63 different genetic conditions. These included some well-known … cystic fibrosis and Marfan syndrome, as well as many rare genetic conditions. These conditions can show up in a variety …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… Medical, Lay Language, and Self-Reported Descriptions of Genetic Conditions 1069T Brian N Lee Understanding ableism in abstracts for genetic and genomic autism research 6044T Dayo Shittu Genetic … islet cell depletion exacerbated in individuals of African ancestry with Type 2 diabetes 5169F Tam Tran Efficient large …
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 … . All the best, … Mapping the relative accuracy of cross-ancestry prediction Lupi, et al. Nat. Comm. , Dec 2024, …
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 …
The Genomics Landscape
In the July 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes the inaugural class of the ASHG-NHGRI Genomics and Public Service Fellowship Program.
… ; Camerun Washington, M.S., C.G.C., from the Greenwood Genetic Center as the Genetics Education & Engagement Fellow … inaccurate labels that conflate race, ethnicity, and genetic ancestry. To address these challenges, NHGRI recently hosted …
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 …
News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… the chromosomes was detected, and that they should see a genetic counselor immediately. The couple found it hard to … meant for their future baby. But when they met with the genetic counselor, she said the genetic abnormality wasn’t likely to be from the fetus but …