Genetic & Genomic MedicineGenome MedicinePeer-reviewed
From Text to Translation: Using Language Models to Prioritize Variants for Clinical Review
Weijiang Li, Xiaomin Li, Ethan Lavallee…·Christopher A. Cassa
This paper introduces ClinVar-BERT, a model that prioritizes variants for clinical review by analyzing variant summaries and distinguishing functional evidence, achieving high accuracy in predicting loss of function.
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