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Genomicsnpj Genomic Medicine
Peer-reviewed journal article

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

Yu Amanda GuoiD, Mei Mei ChangiD, Anders J. SkanderupiD

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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02 /Specification & Classification

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