Benchmarking 13 tools for mutational signature attribution, including a new and improved algorithm.

ABSTRACT: Mutational signatures are characteristic patterns of mutations caused by endogenous mutational processes or by exogenous mutational exposures. There has been little benchmarking of approaches for determining which signatures are present in a sample and estimating the number of mutations due to each signature. This problem is referred to as "signature attribution." We show that there are often many combinations of signatures that can reconstruct the patterns of mutations in a sample reasonably well, even after encouraging sparse solutions. We benchmarked 13 approaches to signature attribution, including a new approach called Presence Attribute Signature Activity (PASA), on large synthetic data sets (2700 synthetic samples in total). These data sets recapitulated the single-base, insertion-d

SUBMITTER: Jiang N 

PROVIDER: S-EPMC11798676 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature