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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4365396/
https://www.ncbi.nlm.nih.gov/pubmed/25786579
http://dx.doi.org/10.1038/srep09331

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4365396/
https://www.ncbi.nlm.nih.gov/pubmed/25786579
http://dx.doi.org/10.1038/srep09331

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