An agentic system for rare disease diagnosis with traceable reasoning.

Abstract excerpt

Rare diseases affect more than 300 million people worldwide1-3, yet timely and accurate diagnosis remains an urgent challenge1,3-5. Patients often endure a prolonged 'diagnostic odyssey' exceeding 5 years, marked by repeated referrals, misdiagnoses and unnecessary interventions, leading to delayed treatment and substantial emotional and economic burden4,5. Here we present DeepRare-a multi-agent system for rare...

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