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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
On May 19-20, 2016, the National Human Genome Research Institute (NHGRI) hosted a two-day workshop where participants were asked to weigh the benefits and risks of sharing aggregate genomic data with secondary users.
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
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 …
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.
… phenotypes” have simpler genetic architectures than disease traits or outcomes. Yet, even low-level molecular … genetic and non-genetic factors contribute to health- and disease-related trait variation and disparities. Goals To …
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… for determining causal variants underlying Mendelian disease. Although WES and WGS have proven to be … conditions and to increase the solve rate for rare disease. The National Human Genome Research Institute (NHGRI) …
Event
On June 26, 2024, NHGRI hosted an application webinar for the ML/AI Tools to Advance Genomic Translational Research (MAGen) notice of funding opportunities (NOFOs) (to be published).
… how individuals with pathogenic genetic variants manifest disease. The objective is to collaboratively identify both genomic and non-genomic factors influencing disease development in individuals carrying pathogenic …