Graph retrieval augmented large language models for facial phenotype associated rare genetic disease
Abstract Many rare genetic diseases have recognizable facial phenotypes that serve as diagnostic clues. While Large Language Models (LLMs) have shown potential in healthcare, their application to rare genetic diseases still faces challenges like hallucination and limited domain knowledge. To address...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2025-08-01
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| Series: | npj Digital Medicine |
| Online Access: | https://doi.org/10.1038/s41746-025-01955-x |
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