Whole-genome and whole-exome sequencing in neurological diseases

被引：88

作者：

Foo, Jia-Nee ^{[2
]}

Liu, Jian-Jun ^{[2
]}

Tan, Eng-King ^{[1
]}

机构：

[1] Duke Natl Univ Singapore, Grad Sch Med, Singapore Gen Hosp, Dept Neurol,Natl Neurosci Inst, Block 1,Level 3,Outram Rd, Singapore 169108, Singapore

[2] ASTAR, Genome Inst Singapore, Singapore 138672, Singapore

来源：

NATURE REVIEWS NEUROLOGY | 2012年 / 8卷 / 09期

关键词：

DE-NOVO MUTATIONS; PARKINSONS-DISEASE; WIDE ASSOCIATION; COMMON VARIANTS; GENE; COMPLEX; RISK; RARE; STRATEGIES; CAPTURE;

D O I：

10.1038/nrneurol.2012.148

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Genetic risk factors that underlie many rare and common neurological disorders remain poorly understood because of the multifactorial and heterogeneous nature of these complex traits. With the decreasing cost of massively parallel sequencing technologies, whole-genome and whole-exome sequencing will soon allow the characterization of the full spectrum of sequence and structural variants present in each individual. Methods are being developed to parse the huge amount of genomic data and to sift out which variants are associated with diseases. Numerous challenges are inherent in the identification of rare and common variants that have a role in complex neurological diseases, and tools are being developed to overcome these challenges. Given that genomic data will soon be the main driver towards the goal of personalized medicine, future developments in the production and interpretation of data, as well as in ethics and counselling, will be needed for whole-genome and whole-exome sequencing to be used as informative tools in a clinical setting.

引用

页码：508 / 517

页数：10

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