AIMC Topic: Silent Mutation

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SyMetrics: an integrated machine learning model for evaluating the pathogenicity of synonymous variants in the human genome.

NAR genomics and bioinformatics
Synonymous single nucleotide variants (sSNVs), traditionally seen as neutral, are now recognized for their biological impact. To assess their relevance, we developed SyMetrics, a framework that integrates predictors of splicing, RNA stability, evolut...

MFDSMC: Accurate Identification of Cancer-Driver Synonymous Mutations Using Multiperspective Feature Representation Learning.

Journal of chemical information and modeling
Synonymous mutations do not change amino acid sequences, but they can drive cancer by influencing splicing, mRNA structure, translation efficiency, and other molecular mechanisms. Although driver synonymous mutations are significantly outnumbered by ...

usDSM: a novel method for deleterious synonymous mutation prediction using undersampling scheme.

Briefings in bioinformatics
Although synonymous mutations do not alter the encoded amino acids, they may impact protein function by interfering with the regulation of RNA splicing or altering transcript splicing. New progress on next-generation sequencing technologies has put t...