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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Vydáno v:	JAMA : the journal of the American Medical Association Ročník 312; číslo 18; s. 1870
Hlavní autoři:	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
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	United States 12.11.2014
Témata:	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
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