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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- 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
NHGRI sponsored its 12th Genomic Medicine meeting, Genomic Medicine XII: Genomics and Risk Prediction on May 6-7, 2019.
… Medicine meeting, Genomic Medicine XII: Genomics and Risk Prediction . The objectives of the meeting were: Review the state of science of polygenic risk scores and how it can be improved Examine other … integrated with genetic variant information in predicting risk Identify research directions in development and …
Event
On December 12-13, 2024, NHGRI and NIAID co-sponsored the 16th Genomic Medicine meeting, Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD.
… Genomic Medicine meeting, Host Genomics and Infectious Disease: Opportunities for Implementing Genomic Medicine , in … Ave … Genomic Medicine XVI: Host Genomics and Infectious Disease … On December 12-13, 2024, NHGRI and NIAID … Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD. … On December 12-13, 2024, NHGRI and …
Event
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… Virtual … Webinar: Ancient Genetic Clues into Modern Human Disease … Enter text here that will appear in Google Search …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… a.m. NHGRI's Current Approach to "Variant to Function to Disease" NHGRI Staff 11:25 - 12:10 p.m. Current State of the … if any, is needed to study Mendelian and common disease, and what should NHGRI do in this area? Why? … of Variation Associated with Human Health and Disease Panel: Barbara Stranger Anshul Kundaje David Valle …
Event
The 2018 meeting focused on KOMP's collaborations with various human disease gene discovery programs.
… on KOMP's collaborations with various human disease gene discovery programs. The day featured talks and … Research Program (Kids First) and the Undiagnosed Disease Network (UDN). … Rockville Hilton Hotel … MD … 1750 … focused on KOMP's collaborations with various human disease gene discovery programs. … The 2018 meeting focused …
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… researchers have been identifying about 300 Mendelian disease genes each year using a technique called whole-exome … to significantly increase the number of known Mendelian disease genes by implementing new genome-sequencing …
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare … from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare … from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare …
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 … Pathogenicity Classification P824 GREGoR: increasing rare disease diagnosis using emerging technologies and data …
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.
… 8:00 p.m. Mendelian Phenotypes Human brains with Tay Sachs disease exhibit altered transcriptomes during fetal … of secondary genomic findings: Experiences of sickle cell disease research participants Board No. PB2224 Jameson Floyd … in two hereditary prostate cancer cohorts reveals rare risk-associated Board No. PB1123 Georgea Foley Convention …
News Release
Researchers from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation affects genome function.
… subset of these variants play a role in human health and disease — but which ones? How genomic variations affect … will understand how these variants affect human health and disease.” … IGVF researchers are also examining how genes and … factors all tie in together to accurately predict risk and come up with effective solutions to help control the …