MutSpec: a Galaxy toolbox for streamlined analyses of somatic mutation spectra in human and mouse cancer genomes

摘要: The nature of somatic mutations observed in human tumors at single gene or genome-wide levels can reveal information on past carcinogenic exposures and mutational processes contributing to tumor development. While large amounts sequencing data are being generated, the associated analysis interpretation mutation patterns that may clues about natural history cancer present complex challenging tasks require advanced bioinformatics skills. To make such analyses accessible a wider community researchers with no programming expertise, we have developed within web-based user-friendly platform Galaxy first-of-its-kind package called MutSpec. MutSpec includes set tools perform variant annotation use statistics for identification signatures genomes comparing obtained those published COSMIC database other sources. offers an framework building reproducible pipelines, integrating existing methods scripts in-house publicly available R packages. be used analyse from whole-exome, whole-genome targeted experiments performed mouse genomes. Results provided various formats including rich graphical outputs. An example is presented illustrate functionalities, straightforward workflow richness publication-grade graphics produced by tool. easy-to-use interface embedded popular limited expertise thus effectively assist discovery resulting exogenous endogenous insults.