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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
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
NHGRI hosts a virtual Q&A with science journalist Angela Saini, author of “Superior: The Return of Race Science” on Thursday, July 23, 2020.
… Association of Professors of Human and Medical Genetic and NHGRI In 2019, journalist Angela Saini released …
Event
On March 15, 2021, NHGRI’s Policy and Program Analysis Branch hosted a panel discussion exploring a constant tension at multiple levels in genomics research and medicine, from patient-provider interactions to research engagement with marginalized communities.
… and Program Analysis Branch hosted a panel discussion - Genetic Paternalism: Striking the Balance Between Expert … engagement with marginalized communities. … Online … Genetic Paternalism: Striking the Balance Between Expert …
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.
… 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 Predisposition Factors for Systemic Lupus …
Event
On November 1-5, 2023, 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.
… Nicola Sugden Understanding ableism in abstracts for genetic and genomic autism research PB2437 Erin Mansell … study of neural tube defects allows an unbiased search for genetic contribution. PB2092 Ted Han Genome wide CRISPR … associated with canine body size. PB1092 Yixing Han Common Genetic Variants are Associated with Plasma and Skin …
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 … analyses, participants were grouped based on their genetic similarities into genetic ancestry groups. The study …
Event
On October 25-29, 2022, 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.
… Complex Traits Quantification of race, ethnicity, and genetic ancestry disparities in anti-hypertensive drug … Exhibit Hall 3:00 p.m. — 4:45 p.m. Mendelian Phenotypes Genetic analysis reveals that GNE Myopathy remains an … Center, South Exhibit Hall 3:00 p.m. — 4:45 p.m. Genetic Counseling, ELSI, Education, and Health Services …
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.
… (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 … effects of these high risk APOL1 variants. Knowing your genetic risk for a disease, such as kidney disease, can help …
News Release
NHGRI has awarded the American Society of Human Genetics (ASHG) a five-year, $7.1 million contract to support a new Genomics and Public Service Fellowship Program, which will provide early-stage professionals with experience in a range of genomics careers.