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

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...

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Main Authors: Fischer, Andrej, Illingworth, Christopher JR, Campbell, Peter J, Mustonen, Ville
Format: Online
Language:English
Published: BioMed Central 2013
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663107/
id pubmed-3663107
recordtype oai_dc
spelling pubmed-36631072013-05-31 EMu: probabilistic inference of mutational processes and their localization in the cancer genome Fischer, Andrej Illingworth, Christopher JR Campbell, Peter J Mustonen, Ville Method 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/. BioMed Central 2013 2013-04-29 /pmc/articles/PMC3663107/ /pubmed/23628380 http://dx.doi.org/10.1186/gb-2013-14-4-r39 Text en Copyright © 2013 Fischer et al., licensee Springer. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Fischer, Andrej
Illingworth, Christopher JR
Campbell, Peter J
Mustonen, Ville
spellingShingle Fischer, Andrej
Illingworth, Christopher JR
Campbell, Peter J
Mustonen, Ville
EMu: probabilistic inference of mutational processes and their localization in the cancer genome
author_facet Fischer, Andrej
Illingworth, Christopher JR
Campbell, Peter J
Mustonen, Ville
author_sort Fischer, Andrej
title EMu: probabilistic inference of mutational processes and their localization in the cancer genome
title_short EMu: probabilistic inference of mutational processes and their localization in the cancer genome
title_full EMu: probabilistic inference of mutational processes and their localization in the cancer genome
title_fullStr EMu: probabilistic inference of mutational processes and their localization in the cancer genome
title_full_unstemmed EMu: probabilistic inference of mutational processes and their localization in the cancer genome
title_sort emu: probabilistic inference of mutational processes and their localization in the cancer genome
description 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/.
publisher BioMed Central
publishDate 2013
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663107/
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