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Title 

CNVRuler: a copy number variation-based case-control association analysis tool

Authors 

J H KimH J HuS H YimJ S BaeSeon-Young KimY J Chung

Publisher 

Oxford University Press (OUP)

Issue Date 

2012

Citation 

Bioinformatics, vol. 28, no. 13, pp. 1790-1792

Abstract 

Summary: 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.

ISSN 

1367-4803

Link 

http://dx.doi.org/10.1093/bioinformatics/bts239

Appears in Collections

1. Journal Articles > Journal Articles

Registered Date

2019-05-02


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