Skip to main content
Other publication in scientific journal - Peer-reviewed, 2020

CNVRanger: association analysis of CNVs with gene expression and quantitative phenotypes

da Silva, Vinicius; Ramos, Marcel; Groenen, Martien; Crooijmans, Richard; Johansson, Anna; Regitano, Luciana; Coutinho, Luiz; Zimmer, Ralf; Waldron, Levi; Geistlinger, Ludwig


A Summary: Copy number variation (CNV) is a major type of structural genomic variation that is increasingly studied across different species for association with diseases and production traits. Established protocols for experimental detection and computational inference of CNVs from SNP array and next-generation sequencing data are available. We present the CNVRanger R/Bioconductor package which implements a comprehensive toolbox for structured downstream analysis of CNVs. This includes functionality for summarizing individual CNV calls across a population, assessing overlap with functional genomic regions, and genome-wide association analysis with gene expression and quantitative phenotypes.


Copy number variation (CNV); structural genomic variation; SNP-arrays; next-generation sequencing data

Published in

2020, volume: 36, number: 3, pages: 972-973

Authors' information

Da Silva, Vinicius
Wageningen University & Research Centre (Wageningen UR)
Da Silva, Vinicius
Swedish University of Agricultural Sciences, Department of Animal Breeding and Genetics
Ramos, Marcel
Groenen, Martien
Wageningen Univ and Res
Crooijmans, Richard
Wageningen Univ and Res
Swedish University of Agricultural Sciences, Department of Animal Breeding and Genetics
Regitano, Luciana
Embrapa Pecuaria Sudeste
Coutinho, Luiz
Univ Sao Paulo
Zimmer, Ralf
Ludwig Maximilians Univ Munchen
Waldron, Levi
Geistlinger, Ludwig

UKÄ Subject classification

Bioinformatics (Computational Biology)

Publication Identifiers


URI (permanent link to this page)