Exome sequencing in Parkinson's disease

被引：14

作者：

Bras, J. M. ^{[1
]}

Singleton, A. B. ^{[2
]}

机构：

[1] UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

[2] NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

来源：

CLINICAL GENETICS | 2011年 / 80卷 / 02期

基金：

美国国家卫生研究院; 英国惠康基金; 英国医学研究理事会;

关键词：

exome sequencing; genetics; genomics; Parkinson's disease; HUMAN GENOME; MUTATIONS; GENE; ASSOCIATION; IDENTIFICATION; DIAGNOSIS; CAPTURE;

D O I：

10.1111/j.1399-0004.2011.01722.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Exome sequencing is rapidly becoming a fundamental tool for genetics and functional genomics laboratories. This methodology has enabled the discovery of novel pathogenic mutations causing mendelian diseases that had, until now, remained elusive. In this review, we discuss not only how we envisage exome sequencing being applied to a complex disease, such as Parkinson's disease, but also what are the known caveats of this approach.

引用

页码：104 / 109

页数：6

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