Targeted Exome Sequencing in Japanese Patients with Retinitis Pigmentosa
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Screening for causative genes in heterogeneous groups of diseases such as retinitis pigmentosa (RP) has been challenging, until recently. These days, even whole genomes can be sequenced using next-generation sequencers. This technology has enabled comprehensive screening of gene mutations in RP patients. However, whole-genome/exome sequencing is still expensive and takes considerable time and labor. In contrast, targeted exome sequencing focuses on selected genes and thereby enables faster and deeper analysis of the regions of interest at a lower cost. In this chapter, we review the data from our previous study on targeted exome sequencing in Japanese RP patients and discuss the utility and limitations of this technique. We also discuss the mutation spectrum in Japanese RP patients compared to previously reported spectra in other ethnicities.
KeywordsRP Targeted resequencing Exome sequencing Japan EYS
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