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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.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.issn 1471-2105
dc.identifier.uri http://hdl.handle.net/10230/41662
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.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.uri http://creativecommons.org/licenses/by/4.0/
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.identifier.doi http://dx.doi.org/10.1186/s12859-018-2234-y
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.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion

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