Development of High-Throughput Clinical Testing ofRPGRORF15 Using a Large Inherited Retinal Dystrophy Cohort | Zendy

John Chiang | Zendy; Tina M. Lamey | Zendy; Nicholas K. Wang | Zendy; Jie Duan | Zendy; Wei Zhou | Zendy; Terri L. McLaren | Zendy; Jennifer A. Thompson | Zendy; Jonathan B. Ruddle | Zendy; John N. De Roach | Zendy

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Development 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.

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