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Predicting the pathogenicity of missense variants using features derived from AlphaFold2.

Bioinformatics (Oxford, England) - 4 May 2023

Schmidt Axel, Röner Sebastian, Mai Karola, Klinkhammer Hannah, Kircher Martin, Ludwig Kerstin U

Abstract excerpt

MOTIVATION: Missense variants are a frequent class of variation within the coding genome, and some of them cause Mendelian diseases. Despite advances in computational prediction, classifying missense variants into pathogenic or benign remains a major challenge in the context of personalized medicine. Recently, the structure of the human proteome was derived with unprecedented accuracy using the artificial...

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PMID: 37084271
DOI: 10.1093/bioinformatics/btad280
PMCID: PMC10203375

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