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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Bibliographic Details
Main Authors: Jie Song, Zhichuan Xu, Mengqiao He, Jinhua Feng, Bairong Shen
Format: Article
Language:English
Published: Nature Portfolio 2025-08-01
Series:npj Digital Medicine
Online Access:https://doi.org/10.1038/s41746-025-01955-x
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