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Identifying Research Priorities to Accelerate Genetic Diagnosis

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 Consortium

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.

Virtual Exhibit

The Human Genome Project is simply a bad idea

The Human Genome Project changed traditional understandings of how and why scientific research is conducted. It was, however, not without its detractors. Early in 1990, there was an effort to stop funding for the nascent Human Genome Project, in the form of a letter writing campaign.

… specific portions of the genome related to human disease, would make a much more sensible beginning.” A …

Virtual Exhibit

Gene Sweepstakes (GeneSweep)

The Gene Sweepstakes — or GeneSweep as it became popularly known — was a three-year-long, sweepstakes-style contest organized by British bioinformatician Ewan Birney, Ph.D., of the European Bioinformatics Institute. Scientists participated in the contest by betting on the total number of protein-coding genes that would be identified in the human genome sequence generated by the Human Genome Project.