Clinical interpretation and implications of whole-genome sequencing.

doi:10.1001/jama.2014.1717

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Article

Clinical interpretation and implications of whole-genome sequencing.

JAMA - 12 Mar 2014

Dewey Frederick E, Grove Megan E, Pan Cuiping, Goldstein Benjamin A, Bernstein Jonathan A, Chaib Hassan, Merker Jason D, Goldfeder Rachel L, Enns Gregory M, David Sean P, Pakdaman Neda, Ormond Kelly E, Caleshu Colleen, Kingham Kerry, Klein Teri E, Whirl-Carrillo Michelle, Sakamoto Kenneth, Wheeler Matthew T, Butte Atul J, Ford James M, Boxer Linda, Ioannidis John P A, Yeung Alan C, Altman Russ B, Assimes Themistocles L, Snyder Michael, Ashley Euan A, Quertermous Thomas

Abstract excerpt

IMPORTANCE: Whole-genome sequencing (WGS) is increasingly applied in clinical medicine and is expected to uncover clinically significant findings regardless of sequencing indication. OBJECTIVES: To examine coverage and concordance of clinically relevant genetic variation provided by WGS technologies; to quantitate inherited disease risk and pharmacogenomic findings in WGS data and resources required for their...

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PMID: 24618965
DOI: 10.1001/jama.2014.1717
PMCID: PMC4119063

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BRCA1

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