A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations

Whole-exome sequencing (WES) is a useful method to identify disease-causing mutations, however, often no candidate mutations are identified using commonly available targeted probe sets. In a recent analysis, we also could not find candidate mutations for 20.9% (9/43) of our pedigrees with congenital...

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Udgivet i:Sci Rep
Main Authors: Miya, Fuyuki, Kato, Mitsuhiro, Shiohama, Tadashi, Okamoto, Nobuhiko, Saitoh, Shinji, Yamasaki, Mami, Shigemizu, Daichi, Abe, Tetsuo, Morizono, Takashi, Boroevich, Keith A., Kosaki, Kenjiro, Kanemura, Yonehiro, Tsunoda, Tatsuhiko
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2015
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4365396/
https://ncbi.nlm.nih.gov/pubmed/25786579
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep09331
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