title: GenomeTornadoPlot: a novel R package for CNV visualization and focality analysis
creator: Hong, Chen
creator: Thiele, Robin
creator: Feuerbach, Lars
subject: ddc-004
subject: 004 Data processing Computer science
subject: ddc-570
subject: 570 Life sciences
description: Motivation: Analysis of focal copy number variations (CNVs) is highly relevant for cancer research, as they pinpoint driver genes. More specifically, due to selective pressure oncogenes and tumor suppressor genes are more often affected by these events than neighboring passengers. In cases where multiple candidates co-reside in a genomic locus, careful comparison is required to either identify multigenic minimally deleted regions of synergistic co-mutations, or the true single driver gene. The study of focal CNVs in large cancer genome cohorts requires specialized visualization and statistical analysis. Results: We developed the GenomeTornadoPlot R-package which generates gene-centric visualizations of CNV types, locations and lengths from cohortwise NGS data. Furthermore, the software enables the pairwise comparison of proximate genes to identify co-mutation patterns or driver-passenger hierarchies. The visual examination provided by GenomeTornadoPlot is further supported by adaptable local and global focality scoring. Integrated into the GenomeTornadoPlot R-Package is the comprehensive PCAWG database of CNVs, comprising 2976 cancer genome entities from 46 cohorts of the Pan-cancer Analysis of Whole Genomes project. The GenomeTornadoPlot R-package can be used to perform exploratory or hypothesis-driven analyses on the basis of the PCAWG data or in combination with data provided by the user. Availability and implementation: GenomeTornadoPlot is written in R script and released via github: https://github.com/chenhong-dkfz/GenomeTornadoPlot. The package is under the license of GPL-3.0.
publisher: International Society for Computational Biology (ISCB)
date: 2022
type: Article
type: info:eu-repo/semantics/article
type: NonPeerReviewed
format: application/pdf
identifier: https://archiv.ub.uni-heidelberg.de/volltextserverhttps://archiv.ub.uni-heidelberg.de/volltextserver/34483/1/btac037.pdf
identifier: DOI:10.11588/heidok.00034483
identifier: https://doi.org/10.1093/bioinformatics/btac037
identifier: urn:nbn:de:bsz:16-heidok-344839
identifier:   Hong, Chen ; Thiele, Robin ; Feuerbach, Lars  (2022) GenomeTornadoPlot: a novel R package for CNV visualization and focality analysis.  Bioinformatics, 38 (7).  pp. 2036-2038.      
relation: https://archiv.ub.uni-heidelberg.de/volltextserver/34483/
relation: info:eu-repo/grantAgreement/EC/FP7/825835
rights: info:eu-repo/semantics/openAccess
rights: http://archiv.ub.uni-heidelberg.de/volltextserver/help/license_urhg.html
language: eng