Please use this identifier to cite or link to this item:
Title: Next-generation sequencing diagnostics for neurological diseases/disorders: From a clinical perspective
Authors: Foo, J.N.
Liu, J.
Tan, E.-K. 
Issue Date: Jul-2013
Citation: Foo, J.N., Liu, J., Tan, E.-K. (2013-07). Next-generation sequencing diagnostics for neurological diseases/disorders: From a clinical perspective. Human Genetics 132 (7) : 721-734. ScholarBank@NUS Repository.
Abstract: Neurological diseases encompass a broad, heterogeneous group of disorders ranging from pediatric neurodevelopmental diseases to late-onset neurodegenerative diseases, most of which are poorly understood and few of which are curable. Most of these diseases have a genetic basis and thus are expected to be amenable to genetic or genomic analysis by next-generation sequencing (NGS). While the advancement of contemporary technologies (such as NGS) is exciting, translating this tool into actual benefit for patients and clinicians can be challenging. In a clinical setting, a sequencing test that is fast, non-invasive, cheap and with perfect specificity would be ideal. However, in practice, there are several hurdles and caveats to consider even before a NGS diagnostic testing can be optimally applied. Proper definition of clinical phenotype, selection of the most appropriate subjects and the clinical setting, optimization of both sensitivity and specificity of the test, evaluation of the availability of the infrastructure and expertise, and consideration of economic, ethical and legal issues are vital in the final application of NGS diagnostic screening in the clinics. © 2013 Springer-Verlag Berlin Heidelberg.
Source Title: Human Genetics
ISSN: 03406717
DOI: 10.1007/s00439-013-1287-2
Appears in Collections:Staff Publications

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


checked on Dec 10, 2018


checked on Dec 10, 2018

Page view(s)

checked on Dec 7, 2018

Google ScholarTM



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