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AI Tool Combines Clinical and Genetic Data to Improve Rare Disease Diagnosis

Mar 02, 2026

Researchers in China developed DeepRare, an AI-based diagnostic tool that achieved 69% accuracy in diagnosing rare diseases by combining patient symptoms, genetic data, and clinical notes, outperforming existing methods and expert opinion.

DeepRare AI System Outperforms Doctors in Rare Disease Diagnosis

Feb 20, 2026

Scientists in Shanghai have developed DeepRare, an AI system that diagnoses rare diseases with 79% accuracy, outperforming experienced doctors in head-to-head testing. The system is now being used by clinicians at over 600 institutions worldwide.