Article

SyMetrics: An Integrated Machine Learning Model for Evaluating the Pathogenicity of Synonymous Variants in the Human Genome

2025-03-23

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...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 11d56a35-4a5b-53e6-a772-47dcc59771b7
DOI: 10.1101/2025.03.21.25324414

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

SyMetrics: An Integrated Machine Learning Model for Evaluating the Pathogenicity of Synonymous Variants in the Human GenomeDOI 10.1101/2025.03.21.25324414Read

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

The DBSAV Database: Predicting Deleteriousness of Single Amino Acid Variations in the Human Proteome.Semantic proximity Read

GESPA: classifying nsSNPs to predict disease association.Semantic proximity Read

MetaRNN: Differentiating Rare Pathogenic and Rare Benign Missense SNVs and InDels Using Deep LearningSemantic proximity Read

The SynMall resource for characterizing the functional impact of synonymous variation.Semantic proximity Read

Mutation severity spectrum of rare alleles in the human genome is predictive of disease typeSemantic proximity Read

Mutation severity spectrum of rare alleles in the human genome is predictive of disease type.Semantic proximity Read

An Ensemble Approach to Predict the Pathogenicity of Synonymous Variants.Semantic proximity Read

Evaluation of computational techniques for predicting non-synonymous single nucleotide variants pathogenicity.Semantic proximity Read

Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants.Semantic proximity Read

regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution.Semantic proximity Read

The landscape of tolerated genetic variation in humans and primatesSemantic proximity Read