Molecular diagnostic experience of whole-exome sequencing in adult patients.

doi:10.1038/gim.2015.142

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Article

Molecular diagnostic experience of whole-exome sequencing in adult patients.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2016

Posey Jennifer E, Rosenfeld Jill A, James Regis A, Bainbridge Matthew, Niu Zhiyv, Wang Xia, Dhar Shweta, Wiszniewski Wojciech, Akdemir Zeynep H C, Gambin Tomasz, Xia Fan, Person Richard E, Walkiewicz Magdalena, Shaw Chad A, Sutton V Reid, Beaudet Arthur L, Muzny Donna, Eng Christine M, Yang Yaping, Gibbs Richard A, Lupski James R, Boerwinkle Eric, Plon Sharon E

Abstract excerpt

PURPOSE: Whole-exome sequencing (WES) is increasingly used as a diagnostic tool in medicine, but prior reports focus on predominantly pediatric cohorts with neurologic or developmental disorders. We describe the diagnostic yield and characteristics of WES in adults. METHODS: We performed a retrospective analysis of consecutive WES reports for adults from a diagnostic laboratory. Phenotype composition was...

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PMID: 26633545
DOI: 10.1038/gim.2015.142
PMCID: PMC4892996

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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