Copy number signature analysis tool and its application in prostate cancer reveals distinct mutational processes and clinical outcomes.

ABSTRACT: Genome alteration signatures reflect recurring patterns caused by distinct endogenous or exogenous mutational events during the evolution of cancer. Signatures of single base substitution (SBS) have been extensively studied in different types of cancer. Copy number alterations are important drivers for the progression of multiple cancer. However, practical tools for studying the signatures of copy number alterations are still lacking. Here, a user-friendly open source bioinformatics tool "sigminer" has been constructed for copy number signature extraction, analysis and visualization. This tool has been applied in prostate cancer (PC), which is particularly driven by complex genome alterations. Five copy number signatures are identified from human PC genome with this tool. The underlying mu

SUBMITTER: Wang S 

PROVIDER: S-EPMC8121287 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature