Article
Development of High-Throughput Clinical Testing of RPGR ORF15 Using a Large Inherited Retinal Dystrophy Cohort.
Investigative ophthalmology & visual science - 4 Sept 2018
Chiang John P W, Lamey Tina M, Wang Nicholas K, Duan Jie, Zhou Wei, McLaren Terri L, Thompson Jennifer A, Ruddle Jonathan, De Roach John N
Abstract excerpt
Purpose: Mutations in the ORF15 region of RPGR account for approximately half of all X-linked retinitis pigmentosa cases. However, a robust high-throughput method for the detection of ORF15 mutations has yet to be validated. We set out to develop the first clinically validated next-generation sequencing (NGS) method for the detection of mutations in this difficult-to-sequence region, including test accuracy and...
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