A Dirichlet-multinomial mixed model for determining differential abundance of mutational signatures.

ABSTRACT:

Background

Mutational processes of diverse origin leave their imprints in the genome during tumour evolution. These imprints are called mutational signatures and they have been characterised for point mutations, structural variants and copy number changes. Each signature has an exposure, or abundance, per sample, which indicates how much a process has contributed to the overall genomic change. Mutational processes are not static, and a better understanding of their dynamics is key to characterise tumour evolution and identify cancer cell vulnerabilities that can be exploited during treatment. However, the structure of the data typically collected in this context makes it difficult to test whether signature exposures differ between conditions or time-points when comparing groups of

SUBMITTER: Morrill Gavarro L 

PROVIDER: S-EPMC11837616 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature