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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
Research Funding
Building upon a foundation of quantitative genetics laid over a century ago, applying modern genomic approaches to resolve how genetic and non-genetic factors shape variation in human diseases and traits.
… about how to identify and interpret the interplay of genetic and non-genetic factors on trait variation. These issues have … association studies (GWAS) reveal differences in apparent genetic effects across families and populations with …
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 Cohort P058 Design of the Prospective …
News
To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.
… Improved genetic tests more accurately assess disease risk regardless of genetic ancestry. … To prevent an emerging genomic technology from …
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 …
Event
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… … Panelists … Contacts … Virtual … Webinar: Ancient Genetic Clues into Modern Human Disease … Enter text here …
Research Funding
Fosters basic and applied research on the ethical, legal and social implications of genetic and genomic research. ​
… the generation, interpretation, understanding and use of genetic and genomic information and associated technologies. … that arise in connection with the design and conduct of genetic and genomic research.  Genomic Healthcare These projects may examine issues that arise as genetic and genomic research are integrated into clinical …
Research Funding
The Genomic Variation Program supports large-scale studies of human genetic variation.
… in the sequence of DNA among individuals are called genetic variation. Genomic variation explains some of the … same chromosome. The program also seeks to relate there genetic variants to functional variation and phenotype. The … Variation Program supports large-scale studies of human genetic variation as part of projects such as the …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… the lack of openly accessible knowledge bases that capture genetic variants, their phenotypic and functional effects and … in diverse populations as it relates to interpreting genetic test results. Lastly, ClinGen will disseminate the … efforts in the establishment of standards in the use of ancestry and diversity information in clinical genomics and …
Research Funding
The PAGE Consortium investigates ancestrally diverse populations to gain a better understanding of how genetic factors influence susceptibility to disease.
… Genome-wide association studies have identified many genetic variants related to disease and have highlighted the … ). The first phase of PAGE examined putative causal genetic variants across approximately 100,000 African … efforts entirely on approximately 50,000 non-European ancestry individuals to better characterize how genetic …
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.Â
… 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 …