An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases

PURPOSE: We evaluate the power of a next-generation sequencing-based ophthalmic targeted sequencing panel (NGS-based OTSP) as a genetics-testing tool for patients suspected of a wide range of hereditary eye diseases. METHODS: NGS-based OTSP encompasses 126 genes with identified mutations that accoun...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Transl Vis Sci Technol
Main Authors: Wang, Panfeng, Li, Shiqiang, Sun, Wenming, Xiao, Xueshan, Jia, Xiaoyun, Liu, Mengchu, Xu, Lieqiang, Long, Yuxi, Zhang, Qingjiong
Formato: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2019
Assuntos:
Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6497090/
https://ncbi.nlm.nih.gov/pubmed/31106028
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/tvst.8.2.21
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados