RareDxR1 is an LLM trained via knowledge internalization, reflection-enhanced sampling, and curriculum RL to perform open-domain rare disease diagnosis from raw notes without human-labeled phenotypes.
Phen2disease: a phenotype- driven model for disease and gene prioritization by bidirectional max- imum matching semantic similarities,
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RareDxR1: Autonomous Medical Reasoning for Rare Disease Diagnosis Beyond Human Annotation
RareDxR1 is an LLM trained via knowledge internalization, reflection-enhanced sampling, and curriculum RL to perform open-domain rare disease diagnosis from raw notes without human-labeled phenotypes.