使用语义网络克服罕见疾病注册表整合的挑战 - 临床研究视角
Karl Gisslander1, Aladdin J Mohammad2,3, Augusto Vaglio4,5
1Department of Clinical Sciences - Rheumatology, Lund University, Lund, SE-221 85, Sweden. karl.gisslander@med.lu.se.
Orphanet journal of rare diseases
|August 29, 2023
概括
整合罕见疾病患者登记册至关重要. 我们提出了一个框架,使临床研究人员能够推动数据整合,克服技术障碍,以便更好地研究罕见疾病.
科学领域:
- 医疗信息学 医疗信息学
- 生物信息学是一种生物信息学.
- 计算生物学 计算生物学
背景情况:
- 罕见疾病患者登记册的扩散需要改进数据互操作性和链接.
- 目前用于大规模罕见疾病数据整合的语义网络解决方案对领域专家提出了挑战,限制了他们的参与.
- 临床研究人员参与罕见疾病数据整合的用户友好方法存在差距.
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