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New NIH-funded resource focuses on use of genomic variants in medical care
Date:9/25/2013

d disease associations. It will also develop standards to analyze variants and determine whether they are potentially disease-causing and medically useful. These researchers have formed the International Collaboration for Clinical Genomics to foster these efforts.

  • Jonathan S. Berg, M.D., Ph.D, and James P. Evans, M.D., Ph.D, University of North Carolina, Chapel Hill; David H. Ledbetter, Ph.D., Geisinger Health System; and Michael S. Watson, Ph.D., American College of Medical Genetics and Genomics, Bethesda, Md.

    $8.4 million over four years

    This group will define categories of clinical relevance for variants. It will organize clinical working groups with experts in molecular genetics, cancer, cardiovascular disease, and other areas to focus on evaluating variants for clinical relevance. It will also study ways to integrate this information into electronic health records.

  • Carlos D. Bustamante, Ph.D., Stanford University, Palo Alto, Calif.; and Sharon E. Plon, M.D., Ph.D., Baylor College of Medicine, Houston

    $8.4 million over four years

    This group will use computational and informatics tools and databases to determine which genomic variants have strong evidence for being associated with disease risk and will prioritize the variants for further study. It will also develop and apply computing methods to process variants more quickly than currently possible. In addition, researchers will improve the predictions of which variants are associated with disease risk in non-white populations. The team will coordinate with ClinVar to disseminate ClinGen's information through public websites.

    As the research groups develop consensus on the clinical value of variants, they will work with professional organizations, which will use the information to develop clinical practice guidelines.


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  • Contact: Steven Benowitz
    steven.benowitz@nih.gov
    301-451-8325
    NIH/National Human Genome Research Institute
    Source:Eurekalert

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