Article
Molecular findings among patients referred for clinical whole-exome sequencing.
JAMA - 12 Nov 2014
Yang Yaping, Muzny Donna M, Xia Fan, Niu Zhiyv, Person Richard, Ding Yan, Ward Patricia, Braxton Alicia, Wang Min, Buhay Christian, Veeraraghavan Narayanan, Hawes Alicia, Chiang Theodore, Leduc Magalie, Beuten Joke, Zhang Jing, He Weimin, Scull Jennifer, Willis Alecia, Landsverk Megan, Craigen William J, Bekheirnia Mir Reza, Stray-Pedersen Asbjorg, Liu Pengfei, Wen Shu, Alcaraz Wendy, Cui Hong, Walkiewicz Magdalena, Reid Jeffrey, Bainbridge Matthew, Patel Ankita, Boerwinkle Eric, Beaudet Arthur L, Lupski James R, Plon Sharon E, Gibbs Richard A, Eng Christine M
Abstract excerpt
IMPORTANCE: Clinical whole-exome sequencing is increasingly used for diagnostic evaluation of patients with suspected genetic disorders. OBJECTIVE: To perform clinical whole-exome sequencing and report (1) the rate of molecular diagnosis among phenotypic groups, (2) the spectrum of genetic alterations contributing to disease, and (3) the prevalence of medically actionable incidental findings such as FBN1...
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