Mechanism-aware variant interpretation pipeline for monogenic epilepsy: RF + ESM-2 LoRA pathogenicity heads, gain-vs-loss-of-function mechanism classifier, sodium-channel prescribing rule, leave-one-out dynamic-evidence framework.
random-forest lora clinvar pharmacogenomics epilepsy variant-interpretation protein-language-model esm2 clinical-genetics vus-classification acmg-amp sodium-channel missense-variant
-
Updated
Apr 30, 2026 - Python