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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Hauptverfasser: Miyagawa, Maiko, Naito, Takehiko, Nishio, Shin-ya, Kamatani, Naoyuki, Usami, Shin-ichi
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2013
Schlagworte:
Research Article
Online Zugang: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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