3 papers
cs.AI2026
Teaching agentic AI to learn expert reasoning for rare disease diagnosis
Minh-Ha Nguyen, Erica Gray, Bryce A. Schuler +17
Rare disease diagnosis depends on expert reasoning that is scarce and difficult to transfer; off-the-shelf large language models (LLMs) rank the correct disease first in only 35.4%…
cs.AI2026
Teaching large language models to reason like expert diagnosticians
Thomas A. Buckley, Riccardo Conci, Peter G. Brodeur +23
Differential diagnosis is an iterative process that integrates patient information with broader medical knowledge. Clinical case series such as the NEJM Clinicopathologic Conferenc…
q-bio.GN2026
RareCollab: an LLM-powered framework for multimodal reasoning in Mendelian disease diagnosis
Guantong Qi, Jiasheng Wang, Mei Ling Chong +15
Rare disease diagnosis increasingly relies on integrating genomic, phenotypic and transcriptomic evidence, yet these signals remain difficult to reconcile within a common interpret…