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

被引：85

作者：

Fischer, Andrej ^{[1
]}

Illingworth, Christopher J. R. ^{[1
]}

Campbell, Peter J. ^{[1
]}

Mustonen, Ville ^{[1
]}

机构：

[1] Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

来源：

GENOME BIOLOGY | 2013年 / 14卷 / 04期

基金：

英国惠康基金;

关键词：

cancer genomes; expectation-maximization; chromatin state; breast cancer; mutation clustering; SOMATIC MUTATIONS; EVOLUTIONARY;

D O I：

10.1186/gb-2013-14-4-r39

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 [微生物学]; 090105 [作物生产系统与生态工程];

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/.

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