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cs.AI2026
Auditing evaluation artifacts and data leakage in large language model systems for rare disease diagnosis
Jian Yang, Peilin Liu, Xiaohan Li +4
Augmented large language model (LLM) systems have reported high benchmark accuracies in rare disease diagnosis, yet their real-world clinical utility remains unproven. A recent met…
cs.AI2026
Unified Multiparadigm Fusion Intelligence for Rare Disease Diagnosis
Jian Yang, Peiling Liu, Songda Li +10
Rare diseases (RDs) affect an estimated 300 million people globally, leaving patients to navigate a protracted diagnostic odyssey constrained by clinical scarcity and fragmented me…