#Rare Disease Diagnosis
Latest news articles tagged with "Rare Disease Diagnosis". Follow the timeline of events, related topics, and entities.
Articles (2)
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🇺🇸 An artificial intelligence framework for end-to-end rare disease phenotyping from clinical notes using large language models
[USA]
arXiv:2602.20324v1 Announce Type: new Abstract: Phenotyping is fundamental to rare disease diagnosis, but manual curation of structured phenotypes from clinical notes is labor-intensive and difficult...
Related: #Artificial Intelligence, #Medical Technology, #Clinical Workflow -
🇺🇸 Integrating Chain-of-Thought and Retrieval Augmented Generation Enhances Rare Disease Diagnosis from Clinical Notes
[USA]
arXiv:2503.12286v2 Announce Type: replace-cross Abstract: Background: Several studies show that large language models (LLMs) struggle with phenotype-driven gene prioritization for rare diseases. Thes...
Related: #Large Language Models, #Chain‑of‑Thought Prompting, #Retrieval Augmented Generation, #Clinical Natural Language Processing