China sets new record in rare disease AI diagnosis
The new AI model DeepRare enhances transparency and reliability, overcoming challenges that traditional systems face in tracing reasoning for rare disease diagnosis.
A Chinese research team has developed an AI-powered system, DeepRare, to diagnose rare diseases with unprecedented accuracy.
The project, led by Shenhua Hospital and the university’s School of Artificial Intelligence, has already attracted over 1,000 specialised users from more than 600 medical and research institutions worldwide.
Tests show DeepRare achieves 57.18 percent accuracy using only clinical data, marking a 24-point improvement over previous models. Including genetic data raises accuracy above 70 percent, showing potential to improve diagnosis in areas without advanced testing.
The system draws on an extensive knowledge base of medical literature and real-world cases. Its cycle of hypothesis, validation, and self-review boosts reliability and fills reasoning gaps, surpassing the limits of traditional AI models.
By enhancing transparency and precision, DeepRare offers a practical tool for clinicians facing the persistent challenge of identifying rare diseases, potentially setting a new global standard for AI-assisted diagnostics.
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