Diffsig: Associating Risk Factors with Mutational Signatures.

ABSTRACT:

Background

Somatic mutational signatures elucidate molecular vulnerabilities to therapy, and therefore detecting signatures and classifying tumors with respect to signatures has clinical value. However, identifying the etiology of the mutational signatures remains a statistical challenge, with both small sample sizes and high variability in classification algorithms posing barriers. As a result, few signatures have been strongly linked to particular risk factors.

Methods

Here, we develop a statistical model, Diffsig, for estimating the association of one or more continuous or categorical risk factors with DNA mutational signatures. Diffsig takes into account the uncertainty associated with assigning signatures to samples as well as multiple risk factors' simultaneous effect

SUBMITTER: Park JE 

PROVIDER: S-EPMC11062813 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature