rasopathy

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Fernandosr85 / closed-world-grounding

Closed-world grounding layer that reduces LLM hallucination in genetic variant classification. Benchmarked on 163 RASopathy variants.

genomics hallucination grounding clinical-ai llm variant-classification rasopathy

Updated Jul 9, 2026
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Fernandosr85 / rasopathy-functional-evidence-atlas

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One-directional functional evidence in RASopathy variant classification: an audit of ClinGen RASopathy VCEP classifications, reproducible from public ClinVar, MaveDB, and UniProt data.

bioinformatics reproducible-research clinvar acmg mavedb variant-curation rasopathy

Updated Aug 15, 2026
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