Next generation sequencing for neurological diseases: New hope or new hype?

被引:21
|
作者
Keogh, M. J. [1 ]
Chinnery, P. F. [1 ]
机构
[1] Newcastle Univ, Mitochondrial Res Grp, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
基金
英国医学研究理事会; 英国惠康基金;
关键词
Exome; Next-generation; Sequencing; Mendelian; Mutation; GENOME-WIDE ASSOCIATION; RARE VARIANTS; IDENTIFIES VARIANTS; SUSCEPTIBILITY; MUTATIONS; GENE; COMMON; DNA; LOCI; TOOL;
D O I
10.1016/j.clineuro.2012.09.030
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Over the past year huge advances have been made in our ability to determine the genetic aetiology of many neurological diseases through the utilisation of next generation sequencing platforms. This technology is, on a daily basis, providing new breakthroughs in neurological disease. The aim of this article is to clearly describe the technological platforms, methods of data analysis, established breakthroughs, and potential future clinical and research applications of this innovative and exciting technique which has relevance to all those working within clinical neuroscience. (C) 2012 Elsevier B.V. All rights reserved.
引用
收藏
页码:948 / 953
页数:6
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