DRP-PSM: Multi-Level Feature Integration Reveals Hierarchical Contributions to Pathogenic Synonymous Mutation Prediction.

ABSTRACT: Synonymous mutations, a unique class of genetic variants, do not change the amino acid sequence of the encoded protein. Despite this, they can impact protein stability and function through diverse molecular mechanisms. Such subtle alterations can contribute to disease initiation and progression, making the prediction of pathogenic synonymous mutations crucial for understanding disease mechanisms as well as improving clinical diagnosis and treatment. In this study, we introduce DRP-PSM, a novel method for predicting pathogenic synonymous mutations that integrates DNA, RNA, and protein-level biological features. Building upon our earlier method, DRP-PSM greatly expands the feature set by incorporating protein-level information alongside enriched DNA and RNA signatures. Our goal is to elucida

SUBMITTER: Cai J 

PROVIDER: S-EPMC12547520 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature