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Updated: Jun 25, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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复杂罕见疾病诊断中的客观化问题:从测试现有诊断支持系统对纤毛病症的测试中吸取的教训

Carole Faviez1,2,3, Xiaoyi Chen4,5,6, Nicolas Garcelon4,5,6

  • 1Centre de Recherche des Cordeliers, Sorbonne Université, INSERM, Université Paris Cité, Paris, F-75006, France. carole.faviez@inserm.fr.

BMC medical informatics and decision making
|May 24, 2024
PubMed
概括

诊断支持系统 (DSS) 显示了罕见疾病识别的潜力,但对于诸如纤毛病症等复杂病例需要改进. 需要进一步开发现实世界的临床应用和早期患者诊断.

关键词:
人工智能的人工智能是人工智能.纤维病症是一种纤维病症.临床决策支持 临床决策支持早期诊断 早期诊断 早期诊断电子健康记录电子健康记录外部评价 外部评价人类现象型的本体学.患者相似性 患者相似性罕见疾病是一种罕见的疾病.

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