Article
SyMetrics: an integrated machine learning model for evaluating the pathogenicity of synonymous variants in the human genome.
NAR genomics and bioinformatics - 1 Mar 2026
Bundalian Linnaeus, Strnadová Martina Schmidt, Garten Felix, Horn Susanne, Stenzel Udo, Popp Denny, Lemke Johannes R, Biskup Saskia, Schulte Björn, May Patrick, Bösebeck Frank, Garten Antje, Thor Doreen, Schulz Angela, Hentschel Julia, Kelso Janet, Schöneberg Torsten, Le Duc Diana
Abstract excerpt
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, evolutionary conservation, codon usage, synonymous variation effects, sequence properties, and allele frequency. We analyzed all possible sSNVs across the human genome, and...
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