MutSpec: a Galaxy toolbox for streamlined analyses of somatic mutation spectra in human and mouse cancer genomes.
BACKGROUND
The nature of somatic mutations observed in human tumors at single gene or genome-wide levels can reveal information on past carcinogenic exposures and mutational processes contributing to tumor development. While large amounts of sequencing data are being generated, the associated analysis and interpretation of mutation patterns that may reveal clues about the natural history of cancer present complex and challenging tasks that require advanced bioinformatics skills. To make such analyses accessible to a wider community of researchers with no programming expertise, we have developed within the web-based user-friendly platform Galaxy a first-of-its-kind package called MutSpec.


RESULTS
MutSpec includes a set of tools that perform variant annotation and use advanced statistics for the identification of mutation signatures present in cancer genomes and for comparing the obtained signatures with those published in the COSMIC database and other sources. MutSpec offers an accessible framework for building reproducible analysis pipelines, integrating existing methods and scripts developed in-house with publicly available R packages. MutSpec may be used to analyse data from whole-exome, whole-genome or targeted sequencing experiments performed on human or mouse genomes. Results are provided in various formats including rich graphical outputs. An example is presented to illustrate the package functionalities, the straightforward workflow analysis and the richness of the statistics and publication-grade graphics produced by the tool.


CONCLUSIONS
MutSpec offers an easy-to-use graphical interface embedded in the popular Galaxy platform that can be used by researchers with limited programming or bioinformatics expertise to analyse mutation signatures present in cancer genomes. MutSpec can thus effectively assist in the discovery of complex mutational processes resulting from exogenous and endogenous carcinogenic insults.
Molecular Mechanisms and Biomarkers Group, International Agency for Research on Cancer, F69372, Lyon, France.
Maude
M
Ardin
Epigenetic Group, International Agency for Research on Cancer, F69372, Lyon, France.
Vincent
V
Cahais
Molecular Mechanisms and Biomarkers Group, International Agency for Research on Cancer, F69372, Lyon, France.
Xavier
X
Castells
Biostatistics Group, International Agency for Research on Cancer, F69372, Lyon, France.
Liacine
L
Bouaoun
Biostatistics Group, International Agency for Research on Cancer, F69372, Lyon, France.
Graham
G
Byrnes
Epigenetic Group, International Agency for Research on Cancer, F69372, Lyon, France.
Zdenko
Z
Herceg
Molecular Mechanisms and Biomarkers Group, International Agency for Research on Cancer, F69372, Lyon, France.
Jiri
J
Zavadil
Molecular Mechanisms and Biomarkers Group, International Agency for Research on Cancer, F69372, Lyon, France. olivierm@iarc.fr.
Magali
M
Olivier
D000818:Animals; D019295:Computational Biology / Q000379:methods; D030541:Databases, Genetic; D059472:Exome; D052138:Genes, Neoplasm; D056726:Genetic Association Studies; D016678:Genome; D015894:Genome, Human; D006801:Humans; D051379:Mice; D009062:Mouth Neoplasms / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D009369:Neoplasms / Q000175:diagnosis / Q000235:genetics*; D012984:Software
Galaxy; Mutation signatures; Mutation spectra; Single base substitutions