Copy-number variants in neurodevelopmental disorders: promises and challenges

被引：91

作者：

Merikangas, Alison K. ^{[1
]}

Corvin, Aiden P. ^{[1
]}

Gallagher, Louise ^{[1
]}

机构：

[1] St James Hosp, Trinity Ctr Hlth Sci, Dept Psychiat, Dublin 8, Ireland

来源：

TRENDS IN GENETICS | 2009年 / 25卷 / 12期

关键词：

GENOME-WIDE ASSOCIATION; STRUCTURAL VARIATION; GENETIC-ASSOCIATION; RECURRENT REARRANGEMENTS; AUTISM; SCHIZOPHRENIA; RISK; DISEASE; REVEALS; COMMON;

D O I：

10.1016/j.tig.2009.10.006

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Copy-number variation (CNV) is the most prevalent type of structural variation in the human genome. There is emerging evidence that copy-number variants (CNVs) provide a new vista on understanding susceptibility to neuropsychiatric disorders. Some challenges in the interpretation of current CNV studies include the use of overlapping samples, differing phenotypic definitions, an absence of population norms for CNVs and a lack of consensus in methods for CNV detection and analysis. Here, we review current CNV association study methods and results in autism spectrum disorders (ASD) and schizophrenia, and provide suggestions for design approaches to future studies that might maximize the translation of this work to etiological understanding.

引用

页码：536 / 544

页数：9

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