CANCERSIGN: a user-friendly and robust tool for identification and classification of mutational signatures and patterns in cancer genomes

Analyses of large somatic mutation datasets, using advanced computational algorithms, have revealed at least 30 independent mutational signatures in tumor samples. These studies have been instrumental in identification and quantification of responsible endogenous and exogenous molecular processes against cancer. The quantitative approach used to deconvolute mutational signatures is becoming an integral part of cancer research. Therefore, development of a stand-alone tool with a user-friendly graphical interface for analysis of cancer mutational signatures is necessary. In this manuscript, we introduce CANCERSIGN as an open access1 bioinformatics tool that uses raw mutation data (BED files) as input, and generates 3-mer and 5-mer mutational signatures. Additionally, this tool enables users to perform clustering on tumor samples based on the raw mutation counts as well as using the proportion of mutational signatures in each sample. Using this tool, we analysed all the whole genome somatic mutation datasets of International Cancer Genome Consortium (ICGC) samples and identified a number of novel signatures.