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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 June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
… the Stage - Application of multi-omics to study health and disease Moderator: Judy Cho, Icahn School of Medicine at Mt. … 1: Multi-omics Integration to Understand Health and Disease Nancy Cox, Vanderbilt University 2:15 - 2:45 p.m. … NHGRI 1:10 - 1:25 p.m. Presentation 1: Using Polygenic Risk Scores Combined With Multi-omics Data to Provide …
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 …
Event
On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
…  We see a broad range of patients from hereditary cancer risk assessment, pharmacogenomics, carrier screening,DTC …
FAQ
Questions and answers to help applicants responding to the Pre-Application Webinar for the Building Partnerships and Broadening Perspectives to Advance ELSI Research (BBAER) Program RFA-HG-24-026.
… Awarded BBAER Sites are expected to implement their needs assessments plan and submit a summary of findings to NHGRI …
Event
NHGRI and NICHD program staff will hold a pre-application interactive Q&A webinar for the Developmental Genotype-Tissue Expression Project funding opportunities and answer questions from prospective applicants.
… collect clinical data through Uniform DRAI (Uniform Donor Risk Assessment Interview) with the family. Is this good …
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.
… how individuals with pathogenic genetic variants manifest disease—the goal of this NOFO—but applicants should clearly … predicting penetrance relate to how individuals manifest disease and identify genomic and non-genomic factors that … of the NOFO?  Clinical expertise in the proposed disease should be integrated at all stages so the developed …
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.
… selecting for or excluding anyone who might be at risk. Final procedures will be determined by Steering …
FAQ
Frequently asked questions from the September 23, 2024 pre-application webinar the NHGRI ELSI Program hosted.
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
… of cardiopulmonary function in patients with Gaucher disease PB4630 Oleg Shchelochkov Genomic and Clinical … of NBAS deficiency expands the phenotypic spectrum of disease. PB3464 David Bernard Vitamin B12-deficient mice … an Alloimmunization Susceptibility Locus in Sickle Cell Disease PB3447 Vence Bonham Democratizing Gene Therapy …