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...

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Autores principales: Wang, Panfeng, Li, Shiqiang, Sun, Wenming, Xiao, Xueshan, Jia, Xiaoyun, Liu, Mengchu, Xu, Lieqiang, Long, Yuxi, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2019
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497090/
https://www.ncbi.nlm.nih.gov/pubmed/31106028
http://dx.doi.org/10.1167/tvst.8.2.21

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