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


ABSTRACT: Recurrence 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.

SUBMITTER: Guo YA 

PROVIDER: S-EPMC7275039 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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

Guo Yu Amanda YA   Chang Mei Mei MM   Skanderup Anders Jacobsen AJ  

NPJ genomic medicine 20200605


Recurrence 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,  ...[more]

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