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.

Details

Title
MutSpot: detection of non-coding mutation hotspots in cancer genomes
Author
Guo, Yu Amanda 1   VIAFID ORCID Logo  ; Chang, Mei Mei 1 ; Jacobsen, Skanderup Anders 1   VIAFID ORCID Logo 

1  Genome Institute of Singapore, Computational and Systems Biology, Agency for Science Technology and Research, Singapore, Singapore (GRID:grid.418377.e) (ISNI:0000 0004 0620 715X) 
Publication year
2020
Publication date
2020
Publisher
Nature Publishing Group
e-ISSN
20567944
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41525-020-0133-4
ProQuest document ID
2488776341
Copyright
© The Author(s) 2020. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.