Open AccessDevelopment of High-Throughput Clinical Testing ofRPGRORF15 Using a Large Inherited Retinal Dystrophy Cohort
Author(s) -
John Chiang,
Tina M. Lamey,
Nicholas K. Wang,
Jie Duan,
Wei Zhou,
Terri L. McLaren,
Jennifer A. Thompson,
Jonathan B Ruddle,
John N. De Roach
Publication year - 2018
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.18-24555
Subject(s) - sanger sequencing , dna sequencing , computational biology , genetics , massive parallel sequencing , computer science , biology , dna
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 coverage data.