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Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

Investigative ophthalmology & visual science - 5 Aug 2014

Wang Jing, Zhang Victor W, Feng Yanming, Tian Xia, Li Fang-Yuan, Truong Cavatina, Wang Guoli, Chiang Pei-Wen, Lewis Richard A, Wong Lee-Jun C

Abstract excerpt

PURPOSE: The purpose of this study was to establish a fully validated, high-throughput next-generation sequencing (NGS) approach for comprehensive, cost-effective, clinical molecular diagnosis of retinitis pigmentosa (RP). METHODS: Target sequences of a panel of 66 genes known to cause all nonsyndromic and a few syndromic forms of RP were enriched by using custom-designed probe hybridization. A total of 939...

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PMID: 25097241
DOI: 10.1167/iovs.14-14936

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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