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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels

BACKGROUND: With the expanded availability of next generation sequencing (NGS)-based clinical genetic tests, clinicians seeking to test patients with Mendelian diseases must weigh the superior coverage of targeted gene panels with the greater number of genes included in whole exome sequencing (WES)...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:PLoS One
Egile Nagusiak: LaDuca, Holly, Farwell, Kelly D., Vuong, Huy, Lu, Hsiao-Mei, Mu, Wenbo, Shahmirzadi, Layla, Tang, Sha, Chen, Jefferey, Bhide, Shruti, Chao, Elizabeth C.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2017
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5289469/
https://ncbi.nlm.nih.gov/pubmed/28152038
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0170843
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