Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies

Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies

Abstract 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...

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Bibliographic Details
Main Authors: Xinjing Wang, Wadih M. Zein, Leera D’Souza, Chimere Roberson, Keith Wetherby, Hong He, Angela Villarta, Amy Turriff, Kory R. Johnson, Yang C. Fann
Format: Article
Language:English
Published: BMC 2017-08-01
Series:BMC Ophthalmology
Subjects:
Retinal
Microdroplet PCR
Next-generation-sequencing
Mutation screening
Online Access:http://link.springer.com/article/10.1186/s12886-017-0549-5

Internet

http://link.springer.com/article/10.1186/s12886-017-0549-5

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