Article

PATHOS: Predicting Variant Pathogenicity by Combining Protein Language Models and Biological Features

2025-12-27

Abstract excerpt

Predicting the pathogenic impact of missense variants is essential for understanding and diagnosing genetic diseases. These approaches have undergone significant evolution, with the latest methodologies based on deep learning approaches. Nonetheless, only a limited number use the potential of Protein Language Models (PLMs), which have demonstrated strong performance across various protein-related tasks. A new pred...

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Literature Corpus work: af7c40af-1868-5d27-8aec-6ca8474300e1
DOI: 10.64898/2025.12.22.25342839

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