A genetic model for neurodevelopmental disease

被引：35

作者：

Coe, Bradley P. ^{[1
]}

Girirajan, Santhosh ^{[1
]}

Eichler, Evan E. ^{[1
,2
]}

机构：

[1] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA

[2] Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA

来源：

CURRENT OPINION IN NEUROBIOLOGY | 2012年 / 22卷 / 05期

基金：

加拿大健康研究院;

关键词：

COPY-NUMBER VARIATION; IDIOPATHIC GENERALIZED EPILEPSY; DE-NOVO CNVS; STRUCTURAL VARIATION; MENTAL-RETARDATION; 15Q13.3; MICRODELETIONS; INTRAGENIC DELETIONS; BIPOLAR-DISORDER; READ DEPTH; VARIANTS;

D O I：

10.1016/j.conb.2012.04.007

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

The genetic basis of neurodevelopmental and neuropsychiatric diseases has been advanced by the discovery of large and recurrent copy number variants significantly enriched in cases when compared to controls. The pattern of this variation strongly implies that rare variants contribute significantly to neurological disease; that different genes will be responsible for similar diseases in different families; and that the same 'primary' genetic lesions can result in a different disease outcome depending potentially on the genetic background. Next-generation sequencing technologies are beginning to broaden the spectrum of disease-causing variation and provide specificity by pinpointing both genes and pathways for future diagnostics and therapeutics.

引用

页码：829 / 836

页数：8

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