DeepRare AI helps shorten the rare disease diagnostic journey with evidence-linked predictions

DeepRare AI helps shorten the rare disease diagnostic journey with evidence-linked predictions

Researchers developed DeepRare, an LLM-driven multi-agent diagnostic system that integrates clinical descriptions, phenotype data, and genomic information to improve rare disease identification. Across thousands of cases, the system showed higher diagnostic recall than existing AI tools and clinicians in benchmark testing, while providing traceable reasoning linked to medical evidence.