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November 13, 2018

Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition

Leslie G. Biesecker, MD1; Robert L. Nussbaum, MD2,3; Heidi L. Rehm, PhD4,5
Author Affiliations Article Information
  • 1Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
  • 2University of California, San Francisco
  • 3Invitae Corp, San Francisco, California
  • 4Center for Genomic Medicine, Massachusetts General Hospital, Boston
  • 5Broad Institute of MIT and Harvard, Cambridge, Massachusetts
JAMA. 2018;320(18):1929-1930. doi:10.1001/jama.2018.14900
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Biesecker LG, Nussbaum RL, Rehm HL. Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition. JAMA. 2018;320(18):1929–1930. doi:10.1001/jama.2018.14900

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