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- Multi-Omics for Health and Disease (Multi-Omics)1
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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) …
Tribute
A candid and kind genomics pioneer leaves a deep impact on NHGRI and the genomics community.
… Polymorphisms) and their connections to health and disease. “I am saddened beyond words. Debbie, a beautiful … about those opportunities, and how we could take rare disease gene discovery to the next level.” Lisa Chadwick, …
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.