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- Developmental Genotype-Tissue Expression (dGTEx)1
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Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… - Break 4:10 PM – Session 5: Computational Tools to Enable Genetic Diagnoses Moderator: Chris Wellington, NHGRI 4:10 PM … much work remains to advance our understanding of the genetic cause of Mendelian conditions and to increase the … Drive … Identifying Research Priorities to Accelerate Genetic Diagnosis … NHGRI is hosting a workshop - Identifying …
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.
… website . … Identifying Research Priorities to Accelerate Genetic Diagnosis April 16-17, 2024 GREGOR Pre-Application … the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration … the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration …
Tribute
A candid and kind genomics pioneer leaves a deep impact on NHGRI and the genomics community.
… she raised important issues concerning the quality of genetic variation information contained within databases at … the causal mutations underlying hundreds of rare genetic diseases, and Debbie's group at the University of …