CANCERSIGN

CANCERSIGN identifies and classifies 3-mer and 5-mer mutational signatures in cancer genomes to quantify endogenous and exogenous mutational processes.

Key Features:

• 3-mer and 5-mer signature identification: Identifies both 3-mer and 5-mer mutational signatures across whole genome sequencing (WGS), whole exome sequencing (WES), and pooled samples.
• Quantitative deconvolution: Performs quantitative deconvolution of mutational signatures from complex cancer genomic mutation catalogs.
• Clustering by signature proportions: Clusters tumor samples based on the proportion of identified mutational signatures to reveal sample groupings and relationships.

Scientific Applications:

• Endogenous and exogenous process analysis: Infers contributions of internal cellular processes and external environmental factors to somatic mutation patterns via signature analysis.
• Comprehensive genomic insights: Uses WGS to reveal additional non-exonic signatures enriched in non-coding regions and uses WES to uncover weak signatures that might be overlooked in less deep sequencing efforts.
• Novel signature discovery: Has been applied to whole-genome somatic mutation datasets profiled by the International Cancer Genome Consortium (ICGC) to identify novel mutational signatures.
• Comparative genomic analysis: Enables comparison between WGS and WES to highlight differences in signature detection across genomic regions.

Methodology:

Performs quantitative deconvolution of mutational signatures, identifies 3-mer and 5-mer signatures from WGS/WES/pooled mutation data, and clusters samples by the proportion of identified signatures.