Please use this identifier to cite or link to this item: https://doi.org/10.1002/ana.22647
Title: Exome sequencing: Dual role as a discovery and diagnostic tool
Authors: Ku, C.-S. 
Cooper, D.N.
Polychronakos, C.
Naidoo, N. 
Wu, M. 
Soong, R. 
Issue Date: Jan-2012
Citation: Ku, C.-S., Cooper, D.N., Polychronakos, C., Naidoo, N., Wu, M., Soong, R. (2012-01). Exome sequencing: Dual role as a discovery and diagnostic tool. Annals of Neurology 71 (1) : 5-14. ScholarBank@NUS Repository. https://doi.org/10.1002/ana.22647
Abstract: Recent developments in high-throughput sequence capture methods and next-generation sequencing technologies have now made exome sequencing a viable approach to elucidate the genetic basis of Mendelian disorders with hitherto unknown etiology. In addition, exome sequencing is increasingly being employed as a diagnostic tool for specific genetic diseases, particularly in the context of those disorders characterized by significant genetic and phenotypic heterogeneity, for example, Charcot-Marie-Tooth disease and congenital disorders of glycosylation. Such disorders are challenging to interrogate with conventional polymerase chain reaction-Sanger sequencing methods, because of the inherent difficulty in prioritizing candidate genes for diagnostic testing. Here, we explore the value of exome sequencing as a diagnostic tool and discuss whether exome sequencing can come to serve a dual role in diagnosis and discovery. We summarize the current status of exome sequencing, the technical challenges facing it, and its adaptation to diagnostics, and make recommendations for the use of exome sequencing as a routine diagnostic tool. Finally, we discuss pertinent ethical concerns, such as the use of exome sequencing data, originally generated in a diagnostic context, in research investigations. Copyright © 2011 American Neurological Association.
Source Title: Annals of Neurology
URI: http://scholarbank.nus.edu.sg/handle/10635/109115
ISSN: 03645134
DOI: 10.1002/ana.22647
Appears in Collections:Staff Publications

Show full item record
Files in This Item:
There are no files associated with this item.

SCOPUSTM   
Citations

115
checked on Sep 19, 2018

WEB OF SCIENCETM
Citations

101
checked on Sep 4, 2018

Page view(s)

65
checked on Jun 29, 2018

Google ScholarTM

Check

Altmetric


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.