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 [DOI: 10.5496/wjmg.v5.i2.14]
Corresponding Author of This Article
Roser Gonzàlez-Duarte, PhD, Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Avinguda Diagonal 643, 08028 Barcelona, Spain. rgonzalez@ub.edu
Research Domain of This Article
Ophthalmology
Article-Type of This Article
Review
Open-Access Policy of This Article
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/
World J Med Genet. May 27, 2015; 5(2): 14-22 Published online May 27, 2015. doi: 10.5496/wjmg.v5.i2.14
Clinical applications of high-throughput genetic diagnosis in inherited retinal dystrophies: Present challenges and future directions
Gemma Marfany, Roser Gonzàlez-Duarte
Gemma Marfany, Roser Gonzàlez-Duarte, Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, 08028 Barcelona, Spain
Gemma Marfany, Roser Gonzàlez-Duarte, CIBER, Instituto de Salud Carlos III, 08028 Barcelona, Spain
Gemma Marfany, Roser Gonzàlez-Duarte, IBUB, Institut de Biomedicina de la Universitat de Barcelona, 08028 Barcelona, Spain
Author contributions: Marfany G and Gonzàlez-Duarte R conceived the review, designed the contents, searched the literature, wrote the manuscript and elaborated the tables.
Supported by Grants SAF2013-49069-C2-1-R (Marfany G and Gonzàlez-Duarte R); BFU2010-15656 (Marfany G) (Ministerio de Ciencia e Innovación); SGR2014-0932 (Generalitat de Catalunya); CIBERER (U718); Retina Asturias (Gonzàlez-Duarte R); and ONCE (Gonzàlez-Duarte R).
Conflict-of-interest: The authors declare no conflict of interest.
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/
Correspondence to: Roser Gonzàlez-Duarte, PhD, Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Avinguda Diagonal 643, 08028 Barcelona, Spain. rgonzalez@ub.edu
Telephone: +34-93-4021034 Fax: +34-93-4034420
Received: November 20, 2014 Peer-review started: November 24, 2014 First decision: December 12, 2014 Revised: January 23, 2015 Accepted: February 4, 2015 Article in press: February 9, 2015 Published online: May 27, 2015 Processing time: 189 Days and 13.1 Hours
Core Tip
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 dystrophies. 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.
