A practical framework RNMF for exploring the association between mutational signatures and genes using gene cumulative contribution abundance.

ABSTRACT:

Background

Mutational signatures are somatic mutation patterns enriching operational mutational processes, which can provide abundant information about the mechanism of cancer. However, understanding of the pathogenic biological processes is still limited, such as the association between mutational signatures and genes.

Methods

We developed a simple and practical R package called RNMF (https://github.com/zhenzhang-li/RNMF) for mutational signature analysis, including a key model of cumulative contribution abundance (CCA), which was designed to highlight the association between mutational signatures and genes and then applying it to a meta-analysis of 1073 individuals with esophageal squamous cell carcinoma (ESCC).

Results

We revealed a number of known and previously u

SUBMITTER: Li Z 

PROVIDER: S-EPMC9636515 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature