Please use this identifier to cite or link to this item: https://doi.org/10.1002/ana.22647
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dc.titleExome sequencing: Dual role as a discovery and diagnostic tool
dc.contributor.authorKu, C.-S.
dc.contributor.authorCooper, D.N.
dc.contributor.authorPolychronakos, C.
dc.contributor.authorNaidoo, N.
dc.contributor.authorWu, M.
dc.contributor.authorSoong, R.
dc.date.accessioned2014-11-26T05:05:45Z
dc.date.available2014-11-26T05:05:45Z
dc.date.issued2012-01
dc.identifier.citationKu, 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
dc.identifier.issn03645134
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/109115
dc.description.abstractRecent 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.
dc.description.urihttp://libproxy1.nus.edu.sg/login?url=http://dx.doi.org/10.1002/ana.22647
dc.sourceScopus
dc.typeReview
dc.contributor.departmentSAW SWEE HOCK SCHOOL OF PUBLIC HEALTH
dc.contributor.departmentCANCER SCIENCE INSTITUTE OF SINGAPORE
dc.description.doi10.1002/ana.22647
dc.description.sourcetitleAnnals of Neurology
dc.description.volume71
dc.description.issue1
dc.description.page5-14
dc.description.codenANNED
dc.identifier.isiut000299412200005
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