Mmsig: a fitting approach to accurately identify somatic mutational signatures in hematological malignancies.

ABSTRACT: Mutational signatures have emerged as powerful biomarkers in cancer patients, with prognostic and therapeutic implications. Wider clinical utility requires access to reproducible algorithms, which allow characterization of mutational signatures in a given tumor sample. Here, we show how mutational signature fitting can be applied to hematological cancer genomes to identify biologically and clinically important mutational processes, highlighting the importance of careful interpretation in light of biological knowledge. Our newly released R package mmsig comes with a dynamic error-suppression procedure that improves specificity in important clinical and biological settings. In particular, mmsig allows accurate detection of mutational signatures with low abundance, such as those introduced by

SUBMITTER: Rustad EH 

PROVIDER: S-EPMC8007623 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature