Article
Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.
PloS one - 1 Jan 2013
Miyagawa Maiko, Naito Takehiko, Nishio Shin-ya, Kamatani Naoyuki, Usami Shin-ichi
Abstract excerpt
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 genes. By the analysis of 216randomly selected Japanese deafness patients (120 early-onset and 96 late-detected),...
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