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Updated: Sep 10, 2025

Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
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Published on: September 8, 2023

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面部表型相关的罕见遗传疾病的图形检索增强型大语言模型

Jie Song1, Zhichuan Xu2, Mengqiao He3

  • 1Department of Ophthalmology and Institutes for Systems Genetics, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, China. songjie02_09@163.com.

NPJ digital medicine
|August 23, 2025
PubMed
概括

这项研究通过将面部表型知识图与大型语言模型 (LLM) 结合起来,以提取增强生成 (RAG) 来增强罕见遗传疾病的诊断. 这种方法提高了诊断准确性和响应的一致性,克服了LLM的局限性.

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