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/