AIBullisharXiv – CS AI · 6h ago7/10
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A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization
Researchers introduced Hygieia, an AI agent system that integrates phenotypic, genetic, and clinical data to diagnose rare diseases and prioritize risk genes. Validated with clinical experts from Yale and Duke-NUS, the system demonstrated 12-60% diagnostic accuracy improvements over physicians and reduced clinician workload in real-world applications.