MutationalPatterns: comprehensive genome-wide analysis of mutational processes

Genome Med. 2018 Apr 25;10(1):33. doi: 10.1186/s13073-018-0539-0.


Background: Base substitution catalogues represent historical records of mutational processes that have been active in a cell. Such processes can be distinguished by various characteristics, like mutation type, sequence context, transcriptional and replicative strand bias, genomic distribution and association with (epi)-genomic features.

Results: We have created MutationalPatterns, an R/Bioconductor package that allows researchers to characterize a broad range of patterns in base substitution catalogues to dissect the underlying molecular mechanisms. Furthermore, it offers an efficient method to quantify the contribution of known mutational signatures within single samples. This analysis can be used to determine whether certain DNA repair mechanisms are perturbed and to further characterize the processes underlying known mutational signatures.

Conclusions: MutationalPatterns allows for easy characterization and visualization of mutational patterns. These analyses willsupport fundamental research into mutational mechanisms and may ultimately improve cancer diagnosis and treatment strategies. MutationalPatterns is freely available at .

Keywords: Base substitutions; Mutational processes; Mutational signatures; R; Replicative strand bias; Somatic mutations; Transcriptional strand bias.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Adult Stem Cells / metabolism
  • Genome, Human*
  • Humans
  • Mutation / genetics*
  • Software*
  • Transcription, Genetic