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

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 pan...

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Detalles Bibliográficos
Autores principales: Wang, Xinjing, Zein, Wadih M., D’Souza, Leera, Roberson, Chimere, Wetherby, Keith, He, Hong, Villarta, Angela, Turriff, Amy, Johnson, Kory R., Fann, Yang C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5571584/
https://www.ncbi.nlm.nih.gov/pubmed/28838317
http://dx.doi.org/10.1186/s12886-017-0549-5

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