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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 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) …
Staff
Dr. Minear is a program director in NHGRI's Division of Genomic Medicine.
… Director in September 2024. She directs the Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium and … Trans-Omics for Precision Medicine (TOPMed) program, the Risk Underlying Rural Areas Longitudinal (RURAL) Cohort … are associated with atherosclerosis and coronary artery disease . Hum Genet . 2011 Jun;129(6):641-54. doi: …
Research Funding
The GREGoR (formerly the Mendelian Genomics Research Consortium) is aimed at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical approaches.