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

Genome Biology

Ville Mustonen¹  Peter J Campbell¹  Christopher JR Illingworth¹  Andrej Fischer¹ 

[1] Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, CB10 1SA, Hinxton, Cambridge, UK

关键词: mutation clustering;    breast cancer;    chromatin state;    expectation-maximization;    cancer genomes;   

Others  :  866859
DOI  :  10.1186/gb-2013-14-4-r39

 received in 2013-01-02, accepted in 2013-04-29,  发布年份 2013

【 摘 要 】

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/ webcite.

【 授权许可】

   
2013 Fischer et al., licensee Springer.

【 图 表 】

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