Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

IMPORTANCE: Clinical whole-exome sequencing is increasingly used for diagnostic evaluation of patients with suspected genetic disorders. OBJECTIVE: To perform clinical whole-exome sequencing and report (1) the rate of molecular diagnosis among phenotypic groups, (2) the spectrum of genetic alteratio...

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Vydáno v:JAMA
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: Artigo
Jazyk:Inglês
Vydáno: 2014
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4326249/
https://ncbi.nlm.nih.gov/pubmed/25326635
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jama.2014.14601
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