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Article

In silico methods for predicting functional synonymous variants.

Genome biology - 22 May 2023

Lin Brian C, Katneni Upendra, Jankowska Katarzyna I, Meyer Douglas, Kimchi-Sarfaty Chava

Abstract excerpt

Single nucleotide variants (SNVs) contribute to human genomic diversity. Synonymous SNVs are previously considered to be "silent," but mounting evidence has revealed that these variants can cause RNA and protein changes and are implicated in over 85 human diseases and cancers. Recent improvements in computational platforms have led to the development of numerous machine-learning tools, which can be used to...

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Identifiers

PMID: 37217943
DOI: 10.1186/s13059-023-02966-1
PMCID: PMC10204308

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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