Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease

被引：81

作者：

Bras, Jose

Guerreiro, Rita

Hardy, John ^{[1
]}

机构：

[1] UCL, Inst Neurol, Reta Lilla Weston Labs, London WC1N 3BG, England

来源：

NATURE REVIEWS NEUROSCIENCE | 2012年 / 13卷 / 07期

基金：

英国惠康基金; 英国医学研究理事会;

关键词：

DNA METHYLATION; WIDE ASSOCIATION; HEXANUCLEOTIDE REPEAT; IDENTIFIES VARIANTS; PARKINSONS-DISEASE; LOCUS DUPLICATION; COMMON VARIANTS; ONSET; MUTATIONS; GENE;

D O I：

10.1038/nrn3271

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Over the past five years the field of neurogenetics has yielded a wealth of data that have facilitated a much greater understanding of the aetiology of many neurological diseases. Most of these advances are a result of improvements in technology that have allowed us to determine whole-genome structure and variation and to examine its impact on phenotype in an unprecedented manner. Genome-wide association studies have provided information on how common genetic variability imparts risk for the development of various complex diseases. Moreover, the identification of rare disease-causing mutations have led to the discovery of novel biochemical pathways that are involved in disease pathogensis. Here, we review these advances and discuss how they have changed the approaches being used to study neurological disorders.

引用

页码：453 / 464

页数：12

共 69 条

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