Publication Name	World Journal of Medical Genetics
Manuscript ID	15311
Country

Received	2014-11-21 08:45
Peer-Review Started	2014-11-24 08:27
To Make the First Decision	2014-12-12 17:23
Return for Revision	2014-12-18 15:31
Revised	2014-12-30 19:27
Second Decision	2015-01-31 19:03
Accepted by Journal Editor-in-Chief	2015-02-03 00:19
Accepted by Executive Editor-in-Chief	2015-02-09 09:26
Articles in Press	2015-02-09 09:26
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript	2015-05-12 09:53
Publish the Manuscript Online	2015-05-29 08:53

ISSN	2220-3184 (online)
Open Access	This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Copyright	© The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
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Category	Ophthalmology
Manuscript Type	Review
Article Title	Clinical applications of high-throughput genetic diagnosis in inherited retinal dystrophies: Present challenges and future directions
Manuscript Source	Invited Manuscript
All Author List	Gemma Marfany and Roser Gonzàlez-Duarte
Funding Agency and Grant Number
Corresponding Author	Roser Gonzàlez-Duarte, PhD, Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Avinguda Diagonal 643, 08028 Barcelona, Spain. rgonzalez@ub.edu
Key Words	Next generation sequencing; Identification of novel causative genes; Inherited retinal dystrophies; Genetic diagnosis; Whole exome sequencing
Core Tip	This review focuses on the application of next generation sequencing (NGS)-based methods [whole genome sequencing, whole exome sequencing (WES), targeted exome sequencing] for genetic diagnosis and novel gene identification in hereditary retinal dystro-phies. Advances over the last two years concerning NGS accuracy, reliability, development of bioinformatics tools, together with the drop in costs and time required for the analysis have allowed thirty novel genes to be identified, plus a large number of new mutations in previously reported genes. NGS techniques (particularly WES) are revolutionizing genetic diagnosis and have clear applications in clinical practice, helping to pave the way for personalized medicine. Present challenges and future directions are also discussed.
Publish Date	2015-05-29 08:53
Citation	Marfany G, Gonzàlez-Duarte R. Clinical applications of high-throughput genetic diagnosis in inherited retinal dystrophies: Present challenges and future directions. World J Med Genet 2015; 5(2): 14-22
URL	http://www.wjgnet.com/2220-3184/full/v5/i2/14.htm
DOI	http://dx.doi.org/10.5496/wjmg.v5.i2.14

Full Article (PDF)	WJMG-5-14.pdf
Full Article (Word)	WJMG-5-14.doc
Manuscript File	15311-Review.docx
Answering Reviewers	15311-Answering reviewers.pdf
Conflict-of-Interest Disclosure Form	15311-Conflict-of-interest statement.pdf
Copyright License Agreement	15311-Copyright assignment.pdf
Non-Native Speakers of English Editing Certificate	15311-Language certificate.pdf
Peer-review Report	15311-Peer-review(s).pdf
Journal Editor-in-Chief Review Report	15311-Journal Editor-in-Chief’s Review Report.pdf
Scientific Misconduct Check	15311-Scientific misconduct check.pdf
Scientific Editor Work List	15311-Scientific editor work list.pdf