Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples
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- dc.contributor.author Díaz-Gay, Marcos
- dc.contributor.author Vila-Casadesús, Maria
- dc.contributor.author Franch-Expósito, Sebastià
- dc.contributor.author Hernández-Illán, Eva
- dc.contributor.author Lozano, Juan José
- dc.contributor.author Castellví Bel, Sergi
- dc.date.accessioned 2019-05-30T06:34:01Z
- dc.date.available 2019-05-30T06:34:01Z
- dc.date.issued 2018
- dc.description.abstract Background: Mutational signatures have been proved as a valuable pattern in somatic genomics, mainly regarding cancer, with a potential application as a biomarker in clinical practice. Up to now, several bioinformatic packages to address this topic have been developed in different languages/platforms. MutationalPatterns has arisen as the most efficient tool for the comparison with the signatures currently reported in the Catalogue of Somatic Mutations in Cancer (COSMIC) database. However, the analysis of mutational signatures is nowadays restricted to a small community of bioinformatic experts. Results: In this work we present Mutational Signatures in Cancer (MuSiCa), a new web tool based on MutationalPatterns and built using the Shiny framework in R language. By means of a simple interface suited to non-specialized researchers, it provides a comprehensive analysis of the somatic mutational status of the supplied cancer samples. It permits characterizing the profile and burden of mutations, as well as quantifying COSMIC-reported mutational signatures. It also allows classifying samples according to the above signature contributions. Conclusions: MuSiCa is a helpful web application to characterize mutational signatures in cancer samples. It is accessible online at http://bioinfo.ciberehd.org/GPtoCRC/en/tools.html and source code is freely available at https://github.com/marcos-diazg/musica
- dc.format.mimetype application/pdf
- dc.identifier.citation Díaz-Gay M, Vila-Casadesús M, Franch-Expósito S, Hernández-Illán E, Lozano JJ, Castellví-Bel S. Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples. BMC Bioinformatics. 2018; 19(1):224. DOI 10.1186/s12859-018-2234-y
- dc.identifier.doi http://dx.doi.org/10.1186/s12859-018-2234-y
- dc.identifier.issn 1471-2105
- dc.identifier.uri http://hdl.handle.net/10230/41662
- dc.language.iso eng
- dc.publisher BioMed Central
- dc.relation.ispartof BMC Bioinformatics. 2018; 19(1):224
- dc.rights © The Author(s). 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
- dc.rights.accessRights info:eu-repo/semantics/openAccess
- dc.rights.uri http://creativecommons.org/licenses/by/4.0/
- dc.subject.keyword COSMIC database
- dc.subject.keyword Cancer genomics
- dc.subject.keyword Mutational signatures
- dc.subject.keyword R language
- dc.subject.keyword Shiny
- dc.subject.keyword Single nucleotide variants
- dc.subject.keyword Web tool
- dc.title Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples
- dc.type info:eu-repo/semantics/article
- dc.type.version info:eu-repo/semantics/publishedVersion