Research-only rare-disease evidence infrastructure, currently implemented and evaluated for TSC1/TSC2. Builds reproducible variant evidence packets, leakage-safe validation controls, and a source-grounded Mechanism Atlas. Not a clinical or diagnostic system; issues no authoritative variant classifications.
bioinformatics genomics reproducible-research clinvar acmg variant-interpretation rare-disease llm-evaluation evidence-provenance tuberous-sclerosis tsc1 tsc2 mechanism-atlas
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Updated
Aug 6, 2026 - Python