CANCERSIGN

"CANCERSIGN" is a stand-alone software tool to facilitate the analysis of cancer mutational signatures, a crucial aspect of understanding the endogenous and exogenous molecular processes underlying cancer. This tool allows researchers to identify 3-mer and 5-mer mutational signatures from various data types, including whole genome, whole exome, or pooled samples. By providing a user-friendly interface, CANCERSIGN makes the complex deconvoluting mutational signatures accessible to researchers without extensive computational expertise.

Key Features and Functionalities:

- Identification of Mutational Signatures: CANCERSIGN can identify 3-mer and 5-mer mutational signatures within whole genome somatic mutation datasets, whole exome datasets, or pooled samples, offering flexibility in analyzing different types of cancer genomic data.

- Clustering of Tumor Samples: The tool also supports the clustering of tumor samples based on the proportion of mutational signatures in each sample. This feature enables users to explore the heterogeneity of cancer mutations within and across tumor types.

- Analysis of Whole Genome and Whole Exome Data: CANCERSIGN's ability to analyze whole genome sequencing (WGS) and whole exome sequencing (WES) data allows researchers to compare and contrast the mutational signatures found in exonic versus non-exonic regions. This comparison can reveal additional non-exonic signatures enriched in non-coding genome regions, which may be identified through WGS, and potentially weaker signatures that deeper WES data can uncover.

- Novel Signature Identification: Using CANCERSIGN, novel mutational signatures have been identified in the datasets profiled by the International Cancer Genome Consortium (ICGC), demonstrating the tool's utility in advancing the field of cancer research by uncovering new insights into the mutational processes driving cancer development.