Article

PreMode predicts mode-of-action of missense variants by deep graph representation learning of protein sequence and structural context

2024-02-23

Abstract excerpt

Accurate prediction of the functional impact of missense variants is important for disease gene discovery, clinical genetic diagnostics, therapeutic strategies, and protein engineering. Previous efforts have focused on predicting a binary pathogenicity classification, but the functional impact of missense variants is multi-dimensional. Pathogenic missense variants in the same gene may act through different modes o...

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Literature Corpus work: 7ffa226a-b279-546b-b1f2-92770aa85b79
DOI: 10.1101/2024.02.20.581321

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