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

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

doi:10.1167/iovs.14-14936

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

Author(s): Jing Wang ¹ , Victor W Zhang ¹ , Yanming Feng ¹ , Xia Tian ¹ , Fang-Yuan Li ¹ , Cavatina Truong ¹ , Guoli Wang ¹ , Pei-Wen Chiang ² , Richard A Lewis ³ , Lee-Jun C Wong ¹

Publication date (Electronic): Aug 05 2014

Journal: Investigative ophthalmology & visual science

Publisher: Association for Research in Vision and Ophthalmology (ARVO)

Keywords: massively parallel sequencing, next generation sequencing, retinitis pigmentosa, target gene enrichment

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Abstract

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).

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Journal ID (iso-abbrev): Invest Ophthalmol Vis Sci

Title: Investigative ophthalmology & visual science

Publisher: Association for Research in Vision and Ophthalmology (ARVO)

ISSN (Electronic): 1552-5783

ISSN (Print): 0146-0404

Publication date (Electronic): Aug 05 2014

Volume: 55

Issue: 10

Affiliations

[1 ] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.

[2 ] Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, United States.

[3 ] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, United States.

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Publisher Item ID: iovs.14-14936

DOI: 10.1167/iovs.14-14936

PubMed ID: 25097241

SO-VID: bc295526-e0f8-4d51-9137-64c215ad033a

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Keywords: massively parallel sequencing,next generation sequencing,retinitis pigmentosa,target gene enrichment

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Keywords: massively parallel sequencing, next generation sequencing, retinitis pigmentosa, target gene enrichment

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

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