Article

Disease-specific variant pathogenicity prediction using multimodal biomedical language models

2025-09-15

Abstract excerpt

Missense variants play a key role in the diagnosis of genetic disorders and in disease risk prediction. Existing methods focus primarily on the prediction of variant effects in terms of their deleteriousness, without taking into account the disease-specific context, and are therefore limited in terms of their utility in real-world diagnosis and decision making. Here, we introduce di sease-specific va riant patho...

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Literature Corpus work: d8beda0c-c205-58e4-9ae1-f055bf03d864
DOI: 10.1101/2025.09.09.675184

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