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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...

Täydet tiedot

Tallennettuna:
Päätekijät: Xinjing Wang, Wadih M. Zein, Leera D’Souza, Chimere Roberson, Keith Wetherby, Hong He, Angela Villarta, Amy Turriff, Kory R. Johnson, Yang C. Fann
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMC 2017-08-01
Sarja:BMC Ophthalmology
Aiheet:
Retinal
Microdroplet PCR
Next-generation-sequencing
Mutation screening
Linkit:http://link.springer.com/article/10.1186/s12886-017-0549-5
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