Evaluating topography of mutational signatures with SigProfilerTopography

bioRxiv the preprint server for biology(2024)

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摘要
The mutations found in a cancer genome are shaped by diverse processes, each displaying a characteristic mutational signature that may be influenced by the genome’s architecture. While prior analyses have evaluated the effect of topographical genomic features on mutational signatures, there has been no computational tool that can comprehensively examine this interplay. Here, we present SigProfilerTopography, a Python package that allows evaluating the effect of chromatin organization, histone modifications, transcription factor binding, DNA replication, and DNA transcription on the activities of different mutational processes. SigProfilerTopography elucidates the unique topographical characteristics of mutational signatures, unveiling their underlying biological and molecular mechanisms. ### Competing Interest Statement LBA is a co-founder, scientific advisory member, and consultant for io9, has equity and receives income. The terms of this arrangement have been reviewed and approved by the University of California, San Diego in accordance with its conflict of interest policies. LBA's spouse is an employee of Biotheranostics. LBA declares U.S. provisional applications with serial numbers: 63/289,601; 63/269,033; 63/483,237; 63/366,392; 63/412,835; and 63/492,348. BO declares no known competing interests or personal relationships that could have appeared to influence the work reported in this paper.
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