Unravelling the instability of mutational signatures extraction via archetypal analysis.

ABSTRACT: The high cosine similarity between some single-base substitution mutational signatures and their characteristic flat profiles could suggest the presence of overfitting and mathematical artefacts. The newest version (v3.3) of the signature database available in the Catalogue Of Somatic Mutations In Cancer (COSMIC) provides a collection of 79 mutational signatures, which has more than doubled with respect to previous version (30 profiles available in COSMIC signatures v2), making more critical the associations between signatures and specific mutagenic processes. This study both provides a systematic assessment of the de novo extraction task through simulation scenarios based on the latest version of the COSMIC signatures and highlights, through a novel approach using archetypal

SUBMITTER: Pancotti C 

PROVIDER: S-EPMC9846778 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature