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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4892996/
https://www.ncbi.nlm.nih.gov/pubmed/26633545
http://dx.doi.org/10.1038/gim.2015.142

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4892996/
https://www.ncbi.nlm.nih.gov/pubmed/26633545
http://dx.doi.org/10.1038/gim.2015.142

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