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

@inproceedings{Wang2017ApplyingNG,
  title={Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies},
  author={Xinjing Wang and Wadih M Zein and Leera D’Souza and Chimere Roberson and Keith Wetherby and Hong Cheng He and Angela Villarta and Amy Turriff and Kory R Johnson and Yang C. Fann},
  booktitle={BMC ophthalmology},
  year={2017}
}
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… CONTINUE READING
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