ClinFly:一个全集的方法来翻译,去识别和总结HPO格式的医疗报告
Lucas W Gauthier1,2, Marjolaine Willems2, Nicolas Chatron1,3
1Genetics Department, AURAGEN, Hospices Civils de Lyon, 69500 Bron, France.
NAR genomics and bioinformatics
|November 5, 2025
概括
ClinFly将医疗报告的翻译和总结自动化为人类现象型本体学 (HPO) 术语,克服了基因组医学的语言障碍. 该工具通过全球标准化临床数据共享来增强罕见病诊断.
科学领域:
- 基因组医学是基因组医学.
- 生物信息学是一种生物信息学.
- 医疗信息学 医疗信息学
背景情况:
- 基因组医学需要精确的表型和全球数据共享,特别是对于罕见疾病.
- 语言障碍和手册注释不一致性阻碍了有效的医疗报告交换和分析.
- 临床信息丢失和潜在的错误诊断是与当前数据共享方法相关的风险.
研究的目的:
- 介绍ClinFly,一个开源管道用于医疗报告的自动化去识别,翻译和总结.
- 将医疗报告转换为人体现象形态学 (HPO) 术语,确保遵守隐私标准和FAIR原则.
- 通过实现高效的跨语言临床数据共享和分析来支持基因组医学.
主要方法:
- 开发了ClinFly,这是一个自动化管道,用于医疗报告的非识别,翻译和HPO总结.
- 进行了一项多中心的前性评估,将ClinFly与医生注释进行比较.
- 评估了50份非英语医学报告的性能,用于保护健康信息 (PHI) 的非识别和表型总结.
主要成果:
- ClinFly实现了99%的回忆率和77%的PHI无标识精度.
- 对于高可信度预测,HPO总结得出49%的回忆率和92%的精度.
- 提醒改进到78%的低可信度术语,平均每报告捕获6.6个HPO术语.
结论:
- ClinFly提供了一种高效和自动化的解决方案,用于 HPO 格式的医疗报告的非识别和总结.
- 该管道有效地解决了基因组医学临床数据共享中的语言障碍.
- 自动化HPO总结有助于更一致和全面的表型,支持罕见疾病研究和诊断.
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