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bioRxiv · 10.1101/740944

MutSpot: detection of non-coding mutation hotspots in cancer genomes

Guo, Y. A.·Chang, M. M.·Jacobsen Skanderup, A.
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Abstract

SummaryRecurrence and clustering of somatic mutations (hotspots) in cancer genomes may indicate positive selection and involvement in tumorigenesis. MutSpot performs genome-wide inference of mutation hotspots in non-coding and regulatory DNA of cancer genomes. MutSpot performs feature selection across hundreds of epigenetic and sequence features followed by estimation of position and patient-specific background somatic mutation probabilities. MutSpot is user-friendly, works on a standard workstation, and scales to thousands of cancer genomes.\n\nAvailability and implementationMutSpot is implemented as an R package and is available at https://github.com/skandlab/MutSpot/\n\nSupplementary informationSupplementary data are available at https://github.com/skandlab/MutSpot/

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Guo, Y. A., Chang, M. M., Jacobsen Skanderup, A.. 2019-08-20. MutSpot: detection of non-coding mutation hotspots in cancer genomes. https://doi.org/10.1101/740944

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