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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
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News Release
Dr. Wilson officially retired from The National Human Genome Research Institute (NHGRI) in September 2020, yet he remains on as a scientist emeritus in its Computational and Statistical Genomics Branch, where he was co-chief for 14 years.
… developed statistical methods that help identify critical genetic predictors for specific traits. He started his foray … at a time. For example, if you wanted to know which genetic variations were associated with, let's say, … tiled regression, automated a way to add or remove genetic variables that help accurately predict certain traits …
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… and dynamic processes in general that may mediate genetic effects on traits?  Advances in sequencing … or theoretically, for scalable approaches to map genetic effects on higher-order compositions of cells: … Biology, Department of Integrative Biology, Department of Statistics University of California, Berkeley  Nivard, …
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… - Break 4:10 PM – Session 5: Computational Tools to Enable Genetic Diagnoses Moderator: Chris Wellington, NHGRI 4:10 PM … much work remains to advance our understanding of the genetic cause of Mendelian conditions and to increase the … Drive … Identifying Research Priorities to Accelerate Genetic Diagnosis … NHGRI is hosting a workshop - Identifying …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
…  No. Title P006 Evaluation and Application of a Genetic Risk Score for Uric Acid in Trans-Ancestry All of Us …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… … National Institutes of Health researchers compared a new genetic animal model of Down syndrome to the standard model … NHGRI senior historian. “As cognitive treatments based on genetic models become more feasible in the future, …  … About NHGRI and NIH … Researchers study enhanced genetic animal model of Down syndrome … NIH researchers …
News Release
The Genetic Counseling Training Program, a collaborative program between the National Institutes of Health and Johns Hopkins University, will be undergoing program planning and development that will reshape training of genetic counselors across the career spectrum.
… University temporarily halts admissions. … The NIH-funded Genetic Counseling Training Program , a master’s degree … NIH to conduct strategic planning and reshape training of genetic counselors across the career spectrum. Currently … program will finish in December 2026. “The NIH-funded Genetic Counseling Training Program has been wildly …
News Release
By considering mixed genetic lineages, NHGRI researchers demonstrated that previously inferred links between a genomic variant that helps digest lactose and traits such as a person’s height and cholesterol level may not be valid.
… NIH study finds that failing to account for mixed genetic lineages could lead to inaccuracies. … Researchers … accounting for population structure. By considering mixed genetic lineages, researchers at the National Human Genome … treated as a genetically homogenous group in large-scale genetic studies, have clear evidence of mixed genetic …
Event
NHGRI hosted a webinar to provide an overview of the Investigator-Initiated Research on Genetic Counseling Processes and Practices Request for Applications (RFA-HG-20-048 and RFA-HG-20-049).
… an overview of the Investigator-Initiated Research on Genetic Counseling Processes and Practices Request for … … Online … Webinar for Investigator-Initiated Research on Genetic Counseling Processes and Practices Request for … an overview of the Investigator-Initiated Research on Genetic Counseling Processes and Practices Request for …
News Release
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
… new molecules involved in diabetes. … In a new large-scale genetic analysis, scientists have found a set of small RNA … author of the study. … About NHGRI and NIH … Large-scale genetic analysis shows microRNAs in human pancreas associated with diabetes … In a new large-scale genetic analysis, National Institutes of Health (NIH) …
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 …