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

• DOI: 10.1186/s12859-018-2234-y
• Publication Date: 2018-06-14T01:43:01Z
• Authors: Marcos Díaz-Gay; Maria Vila-Casadesús; Sebastià Franch-E...; Eva Hernández-Illán; Juan José Lozano; Sergi Castellví-Bel
• Keywords: QH301-705.5; Shiny; Computer applications to medicine. Medical informatics; Mutational signatures; R858-859.7; Web Browser; COSMIC database; Web tool; R language; 03 medical and health sciences; Neoplasms; Databases, Genetic; Cancer genomics; Humans; Biology (General); 0303 health sciences; Genome, Human; Computational Biology; Genetic Variation; 3. Good health; Single nucleotide variants; Mutation; Transcriptome; Software; Genes, Neoplasm

Mutational signatures have been proved as a valuable pattern in somatic genomics, mainly regarding cancer, with potential application biomarker clinical practice. Up to now, several bioinformatic packages address this topic developed different languages/platforms. MutationalPatterns has arisen the most efficient tool for comparison currently reported Catalogue of Somatic Mutations Cancer (COSMIC) database. However, analysis mutational is nowadays restricted small community experts. In work we present Signatures (MuSiCa), new web based on and built using Shiny framework R language. By means simple interface suited non-specialized researchers, it provides comprehensive status supplied cancer samples. It permits characterizing profile burden mutations, well quantifying COSMIC-reported signatures. also allows classifying samples according above signature contributions. MuSiCa helpful characterize accessible online at http://bioinfo.ciberehd.org/GPtoCRC/en/tools.html source code freely available https://github.com/marcos-diazg/musica .