Molecular findings among patients referred for clinical whole-exome sequencing

Clinical whole-exome sequencing is increasingly used for diagnostic evaluation of patients with suspected genetic disorders. 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 dise...

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Bibliographic Details
Published in:	JAMA : the journal of the American Medical Association Vol. 312; no. 18; p. 1870
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	United States 12.11.2014
Subjects:	Adolescent Adult Child Child, Preschool Exome Female Fetus Genetic Diseases, Inborn - diagnosis Genetic Testing Genomics Humans Incidental Findings Infant Infant, Newborn Male Molecular Diagnostic Techniques Mutation Phenotype Referral and Consultation Sequence Analysis, DNA - methods
ISSN:	1538-3598, 1538-3598
Online Access:	Get more information
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