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Integrating Chain-of-Thought and Retrieval Augmented Generation Enhances Rare Disease Diagnosis from Clinical Notes

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. These studies typically use Human Phenotype Ontology (HPO) terms to prompt foundat...

🔗 Read more: https://arxiv.org/abs/2503.12286

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