Assigning mutational signatures to individual samples and individual somatic mutations with SigProfilerAssignment.

ABSTRACT:

Motivation

Analysis of mutational signatures is a powerful approach for understanding the mutagenic processes that have shaped the evolution of a cancer genome. To evaluate the mutational signatures operative in a cancer genome, one first needs to quantify their activities by estimating the number of mutations imprinted by each signature.

Results

Here we present SigProfilerAssignment, a desktop and an online computational framework for assigning all types of mutational signatures to individual samples. SigProfilerAssignment is the first tool that allows both analysis of copy-number signatures and probabilistic assignment of signatures to individual somatic mutations. As its computational engine, the tool uses a custom implementation of the forward stagewise algorithm for spa

SUBMITTER: Diaz-Gay M 

PROVIDER: S-EPMC10746860 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature