Copy number variation and susceptibility to complex traits

被引：6
|
作者：
Canales, Cesar P. [1 ]
Walz, Katherina [1 ]
机构：
[1] Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA
来源：
EMBO MOLECULAR MEDICINE | 2011年 / 3卷 / 01期
关键词：
CNV susceptibility; gene dosage; phenotypic variability; DISEASE; MOUSE; MODEL;
D O I：
10.1002/emmm.201000111
中图分类号：
R-3 [医学研究方法]; R3 [基础医学];
学科分类号：
1001 ;
摘要：
Copy number variations (CNV) within the genome are extremely abundant. In this closeup, Canales and Walz discuss how CNV are associated with normal variation, genomic disorders, genome evolution, adaptive traits and how the use of a novel screen described by Ermakova et al in this issue that is designed to identify human disease-relevant phenotypes associated with CNV in the mouse can help elucidating susceptibility or predisposition to diseases loci.
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收藏
页码：1 / 4
页数：4
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