National Human Genome Research Institute (NHGRI)

FDA recognizes NHGRI’s ClinGen, dataset that ties genetic variants to disease

For the first time, the Food and Drug Administration has formally recognized a public dataset of genetic variants and their relationship to disease to help accelerate the development of reliable genetic tests. Genetic test makers, including those using next-gen sequencing, can use genetic variant information in the Clinical Genome Resource (ClinGen) to support clinical validity in premarket submissions to FDA. ClinGen is administered by the National Human Genome Research Institute, part of the National Institutes of Health, and is available via ClinVar.

Andy Baxevanis, Ph.D., a senior scientist leading the Computational Genomics Unit at the National Human Genome Research Institute (NHGRI), has been named a Fellow of the American Association for the Advancement of Science (AAAS). Dr. Baxevanis was recognized for his distinguished contributions to the field of comparative genomics, particularly for using computational approaches to study the molecular innovations driving diversity in early animal evolution.

In the November issue of The Genomics Landscape, NHGRI Director Dr. Eric Green highlights the 25th anniversary of NHGRI’s Intramural Research Program. Other topics include: ClinGen and ClinVar featured in a special issue of Human Mutation, NIH enacting a policy change for summary results from genomics studies, a request for information (RFA) on the proposed NIH Data Management and Sharing Policy, the NIH All of Us Program funding awards for genome sequencing centers, and more.

North Asians, including Mongolians and other Siberian ethnic groups, may be more closely related to Eastern and Northern Europeans – including the people of Finland – than previously thought, according to a new genomics study in Nature Genetics. The international team of researchers, including those from the National Human Genome Research Institute (NHGRI), made the connection by comparing the whole-genome sequences of 175 ethnic Mongolians to existing genetic variation data.

The National Institutes of Health has updated its Genomic Data Sharing Policy to again allow unrestricted access to genomic summary results for most of the studies it supports. These summary results come from analyzing pooled genomic data from multiple individuals together to generate a statistical result for the entire dataset. Such information can be a powerful tool for helping researchers determine which genomic variants potentially contribute to a disease or disorder. Read the blogpost co-authored by NHGRI Director Eric Green

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National Human Genome Research Institute (NHGRI)

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