An agentic system for rare disease diagnosis with traceable reasoning
Shanghai Jiao Tong University · Shandong Jiaotong University · +7 more institutions
Abstract
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 disease differential diagnosis decision support6–8 powered by large language models, integrating more than 40 specialized tools and up-to-date knowledge sources. DeepRare processes heterogeneous clinical inputs, including free-text descriptions, structured human phenotype ontology terms and genetic…
Citation impact
- FWCI
- 207.38
- Percentile
- 100%
- References
- 46
Authors
15- WZWeike Zhao
Shanghai Jiao Tong University, Shandong Jiaotong University, Beijing Academy of Artificial Intelligence, Shanghai Artificial Intelligence Laboratory
- CWChaoyi Wu
Shanghai Jiao Tong University
- YFYe Fan
Shanghai Jiao Tong University, XinHua Hospital, Shanghai FRP Research Institute (China), Shanghai Clinical Research Center
- PQPengcheng Qiu
Shanghai Jiao Tong University, Shandong Jiaotong University, Beijing Academy of Artificial Intelligence, Shanghai Artificial Intelligence Laboratory
- XZXiaoman Zhang
Harvard University
Topics & keywords
- Rare disease
- Disease
- Ontology
- Rare events
- Affect (linguistics)
- Verifiable secret sharing
- Genetic testing
- Genetic diagnosis
- Peace, Justice and strong institutions