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

来源：

CLINICAL NEUROLOGY AND NEUROSURGERY | 2013年 / 115卷 / 07期

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

页码：948 / 953

页数：6

共 51 条

[1] A method and server for predicting damaging missense mutations [J].

Adzhubei, Ivan A. ;

Schmidt, Steffen ;

Peshkin, Leonid ;

Ramensky, Vasily E. ;

Gerasimova, Anna ;

Bork, Peer ;

Kondrashov, Alexey S. ;

Sunyaev, Shamil R. .

NATURE METHODS, 2010, 7 (04) :248-249

[2] Exome sequencing as a tool for Mendelian disease gene discovery [J].

Bamshad, Michael J. ;

Ng, Sarah B. ;

Bigham, Abigail W. ;

Tabor, Holly K. ;

Emond, Mary J. ;

Nickerson, Deborah A. ;

Shendure, Jay .

NATURE REVIEWS GENETICS, 2011, 12 (11) :745-755

[3] Exome sequencing makes medical genomics a reality [J].

Biesecker, Leslie G. .

NATURE GENETICS, 2010, 42 (01) :13-14

[4] Common and rare variants in multifactorial susceptibility to common diseases [J].

Bodmer, Walter ;

Bonilla, Carolina .

NATURE GENETICS, 2008, 40 (06) :695-701

[5] Exome sequencing in Parkinson's disease [J].

Bras, J. M. ;

Singleton, A. B. .

CLINICAL GENETICS, 2011, 80 (02) :104-109

[6] Genome-wide association study of severity in multiple sclerosis [J].

Briggs, Farren B. S. ;

Shao, Xiaorong ;

Goldstein, Benjamin A. ;

Oksenberg, Jorge R. ;

Barcellos, Lisa F. ;

De Jager, Philip L. .

GENES AND IMMUNITY, 2011, 12 (08) :615-625

[7] Uncovering the roles of rare variants in common disease through whole-genome sequencing [J].

Cirulli, Elizabeth T. ;

Goldstein, David B. .

NATURE REVIEWS GENETICS, 2010, 11 (06) :415-425

[8]

Cooper D.N., 1995, METABOLIC MOL BASES, V7th, P259

[9]

Dias C, 2012, HUMAN MUTATION

[10] PMUT:: a web-based tool for the annotation of pathological mutations on proteins [J].

Ferrer-Costa, C ;

Gelpí, JL ;

Zamakola, L ;

Parraga, I ;

de la Cruz, X ;

Orozco, M .

BIOINFORMATICS, 2005, 21 (14) :3176-3178

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