CNVRuler: a copy number variation-based case-control association analysis tool
CNVRuler: a copy number variation-based case-control association analysis tool
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DOI：
10.1093/bioinformatics/bts239
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发表时间：
2012-07-01
期刊：
影响因子：
5.8
通讯作者：
Chung, Yeun-Jun
中科院分区：
文献类型：
--
作者：
Kim, Ji-Hong;Hu, Hae-Jin;Chung, Yeun-Jun
基于拷贝数变异（CNV）的全基因组关联研究（GWAS）的方法不如单核苷酸多态性（SNP）-GWAS的方法成熟。尽管有多种工具可用于CNV相关性研究，但大多数工具都没有提供CNV区域（CNVR）的适当定义，而CNV区域（CNVR）对于CNV相关性研究至关重要。在这里，我们提出了一个用户友好的程序，称为CNVRTOS的CNV关联研究。来自10种最常见的CNV定义算法的输出可以直接用作用于确定CNVR的三种不同定义的输入文件。一旦定义了CNVR，CNVR支持四种统计关联检验和人群分层选项。CNVRNET基于Sun Microsystems的开源程序R和Java。
The method for genome-wide association study (GWAS) based on copy number variation (CNV) is not as well established as that for single nucleotide polymorphism (SNP)-GWAS. Although there are several tools for CNV association studies, most of them do not provide appropriate definitions of CNV regions (CNVRs), which are essential for CNV-association studies. Here we present a user-friendly program called CNVRuler for CNV-association studies. Outputs from the 10 most common CNV defining algorithms can be directly used as input files for determining the three different definitions of CNVRs. Once CNVRs are defined, CNVRuler supports four kinds of statistical association tests and options for population stratification. CNVRuler is based on the open-source programs R and Java from Sun Microsystems.