Molecular diagnostic experience of whole-exome sequencing in adult patients

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. We performed a retrospective analysis of c...

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Veröffentlicht in:	Genetics in medicine 2016-07, Vol.18 (7), p.678-685
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/1516 631/208/2489/144 631/208/514/1948 Adult adult patients Biomedicine Exome - genetics Female Genetic Diseases, Inborn - diagnosis Genetic Diseases, Inborn - epidemiology Genetic Predisposition to Disease Genetic Testing Genome, Human High-Throughput Nucleotide Sequencing - methods Human Genetics Humans Laboratory Medicine Male original-research-article Pathology, Molecular - methods whole-exome sequencing
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