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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.
… The program comprises five Research Centers (RCs) and a Data Coordinating Center (DCC). The research centers will … The centers will also aim to solve “unsolved” cases for which a candidate gene was not identified by solely using … collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical …
Staff
Dr. Minear is a program director in NHGRI's Division of Genomic Medicine.
… Mollie Minear joined the Division of Genomic Medicine as a Program Director in September 2024.  She directs the Polygenic RIsk MEthods in … Screening Research Program and was a Project Scientist for the Developmental Genotype-Tissue Expression (dGTEx) …
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… whole-genome sequencing (WGS) are commonly used methods for determining causal variants underlying Mendelian disease. … Human Genome Research Institute (NHGRI) is interested in obtaining feedback from the scientific community to better … to Accelerate Genetic Diagnosis … NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate …