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 gene panel by microdroplet PCR.

Methods

This assay involved a primer library which targeted 3071 amplicons from 2078 exons comprised of 184 genes involved in retinal function and/or retinal development. We amplified the target regions using the RainDance target enrichment PCR method and sequenced the products using the MiSeq NGS platform.

Results

In this study, we analyzed 82 samples from 67 families with IRD. Bioinformatics analysis indicated that this procedure was able to reach 9

SUBMITTER: Wang X 

PROVIDER: S-EPMC5571584 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature