Article
Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.
BMC ophthalmology - 24 Aug 2017
Wang Xinjing, Zein Wadih M, D'Souza Leera, Roberson Chimere, Wetherby Keith, He Hong, Villarta Angela, Turriff Amy, Johnson Kory R, Fann Yang C
Abstract excerpt
BACKGROUND: Inherited Retinal dystrophy (IRD) is a broad group of inherited retinal disorders with heterogeneous genotypes and phenotypes. Next generation sequencing (NGS) methods have been broadly applied for analyzing patients with IRD. Here we report a novel approach to enrich the target gene panel by microdroplet PCR. METHODS: This assay involved a primer library which targeted 3071 amplicons from 2078 exons...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.