Journal Article

Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples

Castellví-Bel, Sergi, Díaz-Gay, Marcos, Lozano, Juan José, Hernández-Illán, Eva, Franch-Expósito, Sebastià, Vila-Casadesús, Maria

2018

Overview

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 .

• Publisher: BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
• Subject: Algorithms / Bioinformatics / Biomarkers / Biomedical and Life Sciences / Cancer / Cancer genomics / Clinical medicine / Computational biology / Computational Biology - methods / Computational Biology/Bioinformatics / Computer Appl. in Life Sciences / COSMIC database / Databases, Genetic / Deoxyribonucleic acid / Digital signatures / DNA / Gene mutations / Genes, Neoplasm / Genetic aspects / Genetic Variation / Genome, Human / Genomes / Humans / Life Sciences / Microarrays / Mutation / Mutational signatures / Neoplasms - diagnosis / Neoplasms - genetics / Packaging / Physiological aspects / Sequence analysis (applications) / Shiny / Single nucleotide variants / Software / Stem cells / Transcriptome / Web Browser / Web tool