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Article

An Ensemble Approach to Predict the Pathogenicity of Synonymous Variants.

Genes - 21 Sept 2020

Ranganathan Ganakammal Satishkumar, Alexov Emil

Abstract excerpt

Single-nucleotide variants (SNVs) are a major form of genetic variation in the human genome that contribute to various disorders. There are two types of SNVs, namely non-synonymous (missense) variants (nsSNVs) and synonymous variants (sSNVs), predominantly involved in RNA processing or gene regulation. sSNVs, unlike missense or nsSNVs, do not alter the amino acid sequences, thereby making challenging candidates...

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Identifiers

PMID: 32967157
DOI: 10.3390/genes11091102
PMCID: PMC7565489

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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