Molecular Diagnostic Experience of Whole-Exome Sequencing in Adult Patients

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 whole exome sequencing in adults. METHODS: We pe...

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Bibliographic Details
Published in:Genet Med
Main Authors: 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: Artigo
Language:Inglês
Published: 2015
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4892996/
https://ncbi.nlm.nih.gov/pubmed/26633545
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2015.142
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