Centre for Epidemiology and Biostatistics, University of Melbourne, Carlton, VIC, Australia.
Int J Epidemiol. 2018 Aug 1;47(4):1034-1039. doi: 10.1093/ije/dyy049.
With advances in genetic epidemiology, increasingly large amounts of pedigree-related information are being collected by family studies, including twin studies. To date, biomedical data management systems that cater for family data have usually done so as part of their standard (non-family-centric) data model. Consequently, data managers with computing expertise are needed to extract family datasets and perform family-centric operations. We present a robust approach to handling large family datasets. Our approach is implemented as a new module which extends the capabilities of The Ark, an open-source web-based biomedical data management tool. Using an algorithm designed by the authors, the pedigree module dynamically infers family relationships for any selected subject (not necessarily the proband). A web interface allows researchers to create, update, delete and navigate parental and twin relationships between subjects, and bulk import/export pedigrees. Consanguineous relationships can be captured, and configurable pedigree visualizations generated. A web services interface provides interoperability.
随着遗传流行病学的进步，越来越多的与家族相关的信息正在通过家族研究（包括双胞胎研究）收集。迄今为止，针对家族数据的生物医学数据管理系统通常将其作为其标准（非家族为中心）数据模型的一部分。因此，需要具备计算专业知识的数据管理员来提取家族数据集并执行以家族为中心的操作。我们提出了一种处理大型家族数据集的稳健方法。我们的方法实现为一个新模块，该模块扩展了开源基于网络的生物医学数据管理工具 The Ark 的功能。使用作者设计的算法，谱系模块可以为任何选定的主题（不一定是先证者）动态推断家族关系。一个网络界面允许研究人员创建、更新、删除和导航主题之间的父母和双胞胎关系，并批量导入/导出家族谱。可以捕获血缘关系，并生成可配置的家族谱可视化效果。一个 Web 服务接口提供了互操作性。
