CaMuS: simultaneous fitting and de novo imputation of cancer mutational signature.

ABSTRACT: The identification of the mutational processes operating in tumour cells has implications for cancer diagnosis and therapy. These processes leave mutational patterns on the cancer genomes, which are referred to as mutational signatures. Recently, 81 mutational signatures have been inferred using computational algorithms on sequencing data of 23,879 samples. However, these published signatures may not always offer a comprehensive view on the biological processes underlying tumour types that are not included or underrepresented in the reference studies. To circumvent this problem, we designed CaMuS (Cancer Mutational Signatures) to construct de novo signatures while simultaneously fitting publicly available mutational signatures. Furthermore, we propose to estimate signature similarity by co

SUBMITTER: Cartolano M 

PROVIDER: S-EPMC7653908 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature