Inferring active mutational processes in cancer using single cell sequencing and evolutionary constraints.

ABSTRACT: Ongoing mutagenesis in cancer drives genetic diversity throughout the natural history of cancers. As the activities of mutational processes are dynamic throughout evolution, distinguishing the mutational signatures of 'active' and 'historical' processes has important implications for studying how tumors evolve. This can aid in understanding mutagenic states at the time of presentation, and in associating active mutational process with therapeutic resistance. As bulk sequencing primarily captures historical mutational processes, we studied whether ultra-low-coverage single-cell whole-genome sequencing (scWGS), which measures the distribution of mutations across hundreds or thousands of individual cells, could enable the distinction between historical and active mutational processes. While t

SUBMITTER: Satas G 

PROVIDER: S-EPMC11888314 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature