Da Silva, Vinicius and Ramos, Marcel and Groenen, Martien and Crooijmans, Richard and Johansson, Anna Maria and Regitano, Luciana and Coutinho, Luiz and Zimmer, Ralf and Waldron, Levi and Geistlinger, Ludwig
(2020).
CNVRanger: association analysis of CNVs with gene expression and quantitative phenotypes.
Bioinformatics. 36
, 972-973
[Other publication in scientific journal]
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Abstract
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.
| Authors/Creators: | Da Silva, Vinicius and Ramos, Marcel and Groenen, Martien and Crooijmans, Richard and Johansson, Anna Maria and Regitano, Luciana and Coutinho, Luiz and Zimmer, Ralf and Waldron, Levi and Geistlinger, Ludwig | ||||||
|---|---|---|---|---|---|---|---|
| Title: | CNVRanger: association analysis of CNVs with gene expression and quantitative phenotypes | ||||||
| Series Name/Journal: | Bioinformatics | ||||||
| Year of publishing : | 2020 | ||||||
| Volume: | 36 | ||||||
| Page range: | 972-973 | ||||||
| Number of Pages: | 2 | ||||||
| Publisher: | Oxford University Press | ||||||
| ISSN: | 1367-4803 | ||||||
| Language: | English | ||||||
| Publication Type: | Other publication in scientific journal | ||||||
| Article category: | Scientific peer reviewed | ||||||
| Version: | Published version | ||||||
| Copyright: | Creative Commons: Attribution 4.0 | ||||||
| Full Text Status: | Public | ||||||
| Subjects: | (A) Swedish standard research categories 2011 > 1 Natural sciences > 102 Computer and Information Science > 10203 Bioinformatics (Computational Biology) (applications to be 10610) | ||||||
| Keywords: | Copy number variation (CNV), structural genomic variation, SNP-arrays, next-generation sequencing data | ||||||
| URN:NBN: | urn:nbn:se:slu:epsilon-p-101819 | ||||||
| Permanent URL: | http://urn.kb.se/resolve?urn=urn:nbn:se:slu:epsilon-p-101819 | ||||||
| Additional ID: |
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| Alternative URL: | https://academic.oup.com/bioinformatics/advance-article/doi/10.1093/bioinformatics/btz632/5544927 | ||||||
| ID Code: | 16781 | ||||||
| Faculty: | VH - Faculty of Veterinary Medicine and Animal Science | ||||||
| Department: | (VH) > Dept. of Animal Breeding and Genetics | ||||||
| Deposited By: | SLUpub Connector | ||||||
| Deposited On: | 26 Mar 2020 14:07 | ||||||
| Metadata Last Modified: | 15 Jan 2021 19:19 |
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