EMu: probabilistic inference of mutational processes and their localization in the cancer genome

Genome Biol. 2013 Apr 29;14(4):R39. doi: 10.1186/gb-2013-14-4-r39.


The spectrum of mutations discovered in cancer genomes can be explained by the activity of a few elementary mutational processes. We present a novel probabilistic method, EMu, to infer the mutational signatures of these processes from a collection of sequenced tumors. EMu naturally incorporates the tumor-specific opportunity for different mutation types according to sequence composition. Applying EMu to breast cancer data, we derive detailed maps of the activity of each process, both genome-wide and within specific local regions of the genome. Our work provides new opportunities to study the mutational processes underlying cancer development. EMu is available at http://www.sanger.ac.uk/resources/software/emu/.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Breast Neoplasms / genetics*
  • DNA, Neoplasm / genetics*
  • Female
  • Genome, Human*
  • Humans
  • Mutagenesis*
  • Probability
  • Sequence Analysis, DNA / methods*
  • Software*


  • DNA, Neoplasm