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

Fischer, A., Illingworth, C. J.R. , Campbell, P. J. and Mustonen, V. (2013) EMu: probabilistic inference of mutational processes and their localization in the cancer genome. Genome Biology, 14(4), R39. (doi: 10.1186/gb-2013-14-4-r39) (PMID:23628380) (PMCID:PMC3663107)

Abstract

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/.

• Item Type: Articles
• Additional Information: We would like to acknowledge the Wellcome Trust for support under grant reference 098051. AF is supported by the German Research Foundation (DFG) under grant reference number FI 1882/1-1.
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Illingworth, Dr Chris
• Authors: Fischer, A., Illingworth, C. J.R., Campbell, P. J., and Mustonen, V.
• College/School: College of Medical Veterinary and Life Sciences > School of Infection & Immunity; College of Medical Veterinary and Life Sciences > School of Infection & Immunity > Centre for Virus Research
• Journal Name: Genome Biology
• Publisher: BioMed Central
• ISSN: 1474-760X
• ISSN (Online): 1465-6906
• Copyright Holders: Copyright © 2013 The Authors
• First Published: First published in Genome Biology, 14(4):R39
• Publisher Policy: Reproduced under a Creative Commons License