一个患者驱动的注册表的 FAIR 之旅:从杜琴数据平台 FAIR 化经验的反思和实际解决方案
Nawel Lalout1,2,3, Mark D Wilkinson4,5, Dagmar Wandrei6
1Duchenne Parent Project, Veenendaal, The Netherlands.
Journal of neuromuscular diseases
|October 1, 2025
概括
杜琴数据平台的公平化使得注册表之间能够共享数据. 这一过程使数据可查找,可访问,可互操作和可重复使用 (FAIR),允许联合分析,同时保护患者的隐私.
科学领域:
- 数据科学数据科学数据科学
- 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:
- 自2018年以来,主要组织的努力旨在提高与杜申尼有关的数据在各个注册表中的可重复使用性.
- FAIRification过程将人类语言转化为机器可读的编码语言,确保数据是可查找,可访问,可互操作和可重复使用的 (FAIR).
研究的目的:
- 为了记录 Duchenne 数据平台的 FAIRIFying 过程和挑战,一个患者注册表.
- 思考FAIR数据原则在罕见疾病环境中的实际实施.
主要方法:
- 一个由FAIR项目经理协调的多学科团队制定了FAIR化计划.
- 专注于罕见疾病和患者报告的结果的共同数据元素,优先考虑隐私和自主权.
- 利用开源和定制软件进行数据转换,并采用保护隐私的"数据访问"方法进行联合探索.
主要成果:
- 十步计划成功地解决了 FAIRification 的社会,法律,道德和技术方面.
- 概念验证证明了Duchenne数据平台与其他四个注册表之间的互操作性和FAIR数据发现/重复使用.
- 关于FAIR数据的持续误解成为更广泛的社区采用障碍.
结论:
- 通过使用FAIR原则,联合分析和在注册表之间访问数据是可行的.
- 建议包括利用FAIR培训,解决误解,咨询专家,并利用共享的开源资源来克服实施障碍.
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