SigProfilerMatrixGenerator: a tool for visualizing and exploring patterns of small mutational events.

ABSTRACT:

Background

Cancer genomes are peppered with somatic mutations imprinted by different mutational processes. The mutational pattern of a cancer genome can be used to identify and understand the etiology of the underlying mutational processes. A plethora of prior research has focused on examining mutational signatures and mutational patterns from single base substitutions and their immediate sequencing context. We recently demonstrated that further classification of small mutational events (including substitutions, insertions, deletions, and doublet substitutions) can be used to provide a deeper understanding of the mutational processes that have molded a cancer genome. However, there has been no standard tool that allows fast, accurate, and comprehensive classification for all types

SUBMITTER: Bergstrom EN 

PROVIDER: S-EPMC6717374 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature