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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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顔面フェノタイプに関連した希少遺伝疾患のグラフ検索拡張大型言語モデル

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
まとめ

この研究は,検索拡張生成 (RAG) を用いた大型言語モデル (LLM) と顔面フェノタイプ知識グラフを統合することで,まれな遺伝疾患の診断を強化します. このアプローチは,診断の正確性と応答の一貫性を向上させ,LLMの限界を克服します.

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