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

Yu Amanda Guo; Mei Mei Chang; Anders Jacobsen Skanderup

doi:10.1038/s41525-020-0133-4

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

NPJ Genom Med. 2020 Jun 5:5:26. doi: 10.1038/s41525-020-0133-4. eCollection 2020.

Authors

Yu Amanda Guo^#¹, Mei Mei Chang^#¹, Anders Jacobsen Skanderup¹

Affiliation

¹ Computational and Systems Biology, Agency for Science Technology and Research, Genome Institute of Singapore, 60 Biopolis Street, Singapore, 138672 Singapore.

^# Contributed equally.

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.

Keywords: Cancer genomics; Genome informatics.