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Article

GraphyloVar: predicting the impact of non-coding variants using a multi-species sequence model.

Bioinformatics (Oxford, England) - 2 Jul 2026

Lim Dongjoon, Blanchette Mathieu

Abstract excerpt

MOTIVATION: Understanding the functional impact of genetic variants is a key problem for precision medicine. Tools like CADD, PhyloP, and PhastCons are useful, but they often look at each position in the genome in isolation. This means they can miss important information from the evolutionary history that connects different species. In this paper, we extend our previous model, Graphylo, to predict the effects of...

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Identifiers

PMID: 42330352
DOI: 10.1093/bioinformatics/btag426
PMCID: PMC13330927

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