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Updated: Jul 19, 2025

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PhenoScore通过将面部分析与其他临床特征结合使用机器学习框架来量化罕见遗传疾病的表型变异

Alexander J M Dingemans1,2, Max Hinne2, Kim M G Truijen1

  • 1Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

Nature genetics
|August 7, 2023
PubMed
概括

人工智能框架PhenoScore集成了面部和表型数据以识别遗传综合征. 这种工具改善了神经发育障碍的基因型-表型相关性.

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