Title: Whole Genome Sequencing in Patients with Retinitis Pigmentosa
Abstract: Retinitis pigmentosa (RP), the most common form of retinal dystrophy, for which numerous disease-associated genes have been identified, has been studied mainly through the investigation of patients of Caucasian descent. Meanwhile, the genetic background of RP patients in Asia has remained elusive for many years because countries in this region lacked infrastructure and resources to conduct genetic research. However, those circumstances are changing rapidly. The recent economic growth of Asian countries and interest in Asian markets have attracted a large investment in the field of genetics, resulting in a substantial improvement in the research environment. Furthermore, the recent application of next-generation sequencing (NGS) technology has enabled the assessment of numerous candidate genes at an affordable cost, finally providing an opportunity to elucidate the genetics of RP in Asian countries. To date, a few sequencing platforms based on NGS, including targeted sequencing of a panel of retinal dystrophy genes, whole exome sequencing, and whole genome sequencing (WGS), have been applied to study the genetics of Asian RP. In this chapter, the methodological features of WGS are discussed in comparison with other NGS-based platforms, along with the results following application of WGS for the study of Asian RP patients.
Publication Year: 2017
Publication Date: 2017-01-01
Language: en
Type: book-chapter
Indexed In: ['crossref']
Access and Citation
Cited By Count: 1
AI Researcher Chatbot
Get quick answers to your questions about the article from our AI researcher chatbot