SyMetrics: An Integrated Machine Learning Model for Evaluating the Pathogenicity of Synonymous Variants in the Human Genome
Linnaeus Bundalian, Martina Strnadová, Felix Garten, Susanne Horn, Udo Stenzel, Denny Popp, Johannes R. Lemke, Saskia Biskup, Björn Schulte, Patrick May, Frank Bösebeck, Antje Garten, Doreen Thor, Angela Schulz, Julia Hentschel, , Diana Le Duc
SyMetrics evaluates the pathogenicity of synonymous variants using a machine learning model that integrates multiple predictors, achieving high accuracy in distinguishing deleterious from benign variants.
NAR Genomics and Bioinformatics · Dec 2, 2025Peer-reviewedGenetic & Genomic Medicine