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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
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
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 … Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score . Since …
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 …
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 …
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
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.
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… builds off another best practice model called the Genetic Risk Prediction Studies (GRIPS) statement, published … smaller set of genomic variants and gene scores. However, genetic risk prediction models have evolved rapidly since …
FAQ
Questions and answers to help applicants responding to the ML/AI Tools to Advance Genomic Translational Research (MAGen) notice of funding opportunities (NOFOs): RFA-HG-24-004 and RFA-HG-24-005.
… EHR data should be well described including summary statistics and access to the datasets to allow their … to develop and cross-validate tools. The summary statistics should include sufficient details to assess the … enhance the prediction of how individuals with pathogenic genetic variants manifest disease—the goal of this NOFO—but …
FAQ
On October 10, 2024, NHGRI hosted a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs: RFA-HG-24-021, RFA-HG-24-022, and RFA-HG-24-023. These FAQs contain questions answered during that webinar.
… expected to do data cleaning that links clinical data with genetic data? Yes, in collaboration with the CGs and SeqC. … assigned to the CGs for the clinical data and SeqC for the genetic data. The CC will be responsible for linking the clinical data with the genetic data.  Will statistical resources be available …