Search Results

1 - 3 of 3
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) …
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.
News Release
NHGRI and other NIH institutes recently participated in the high-energy science communications contest called the Three-minute Talk.
… director and senior investigator for NHGRI's Genetic Disease Research Branch. "These scientists are still speaking … Melissa Harris (Research Fellow, Pavan group, Genetic Disease Research Branch). NHGRI TmT finalists. Bottom, L to … Kapnick (Graduate Student, Schwartzberg group, Genetic Disease Research Branch); Brenna Labarre (Graduate student, …