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Predicting the Pathogenicity of Human Protein Variants: Not Only a Matter of Residue Labeling.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2025

Manfredi Matteo, Vazzana Gabriele, Babbi Giulia, Bertolini Elisa, Savojardo Castrense, Martelli Pier Luigi, Casadio Rita

Abstract excerpt

The pathogenicity of human variants is an important annotation feature that may help in understanding, at a molecular level, the propensity for a human being to develop a certain disease or pathology. Recently, protein sequence embedding associated with machine and/or deep learning has been proven useful in improving results in this area. Different aspects of pathogenic variants can help in understanding the...

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PMID: 40601259
DOI: 10.1007/978-1-0716-4623-6_12

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