CloneSig can jointly infer intra-tumor heterogeneity and mutational signature activity in bulk tumor sequencing data.

ABSTRACT: Systematic DNA sequencing of cancer samples has highlighted the importance of two aspects of cancer genomics: intra-tumor heterogeneity (ITH) and mutational processes. These two aspects may not always be independent, as different mutational processes could be involved in different stages or regions of the tumor, but existing computational approaches to study them largely ignore this potential dependency. Here, we present CloneSig, a computational method to jointly infer ITH and mutational processes in a tumor from bulk-sequencing data. Extensive simulations show that CloneSig outperforms current methods for ITH inference and detection of mutational processes when the distribution of mutational signatures changes between clones. Applied to a large cohort of 8,951 tumors with whole-exome seq

SUBMITTER: Abecassis J 

PROVIDER: S-EPMC8429716 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature