From Text to Translation: Using Language Models to Prioritize Variants for Clinical Review
Weijiang Li, Xiaomin Li, Ethan Lavallee, Alice Saparov, Marinka Žitnik, 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.
Genome Medicine · May 19, 2026Peer-reviewedGenetic & Genomic Medicine