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JAMA Insights
Genomics and Precision Health
May 9, 2017

Finding the Rare Pathogenic Variants in a Human Genome

Author Affiliations
  • 1Department of Genetics, University of North Carolina at Chapel Hill
  • 2Department of Medicine, University of North Carolina at Chapel Hill
JAMA. 2017;317(18):1904-1905. doi:10.1001/jama.2017.0432

Decreases in the cost of DNA sequencing have enabled substantial progress in fields ranging from archaeology and evolution to basic biomedical science. Concomitantly, there have been calls for routine genome-scale sequencing of healthy individuals in hopes of discovering clinically important information. For example, discovery of a high risk of breast and ovarian cancer due to a BRCA1/2 mutation can enable aggressive surveillance or risk-reducing surgery.

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