Targeted Exon Sequencing Successfully Discovers Rare Causative Genes and Clarifies the Molecular Epidemiology of Japanese Deafness Patients

Target exon resequencing using Massively Parallel DNA Sequencing (MPS) is a new powerful strategy to discover causative genes in rare Mendelian disorders such as deafness. We attempted to identify genomic variations responsible for deafness by massive sequencing of the exons of 112 target candidate...

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Main Authors: Miyagawa, Maiko, Naito, Takehiko, Nishio, Shin-ya, Kamatani, Naoyuki, Usami, Shin-ichi
Formato: Artigo
Idioma:Inglês
Publicado: Public Library of Science 2013
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3742761/
https://ncbi.nlm.nih.gov/pubmed/23967202
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0071381
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