NDLI: Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective

Content Provider	Springer Nature Link
Author	Foo, Jia Nee Liu, Jianjun Tan, Eng King
Copyright Year	2013
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.
Starting Page	721
Ending Page	734
Page Count	14
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	132
Issue Number	7
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2013-03-23
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Human Genetics Molecular Medicine Gene Function Metabolic Diseases
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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