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An open-source, integrated pedigree data management and visualization tool for genetic epidemiology
International Journal of Epidemiology ( IF 7.7 ) Pub Date : 2018-04-05 , DOI: 10.1093/ije/dyy049
Thilina Ranaweera 1 , Enes Makalic 1 , John L Hopper 1 , Adrian Bickerstaffe 1
Affiliation  

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.

中文翻译:

一个用于遗传流行病学的开源,集成谱系数据管理和可视化工具

随着遗传流行病学的进步,家庭研究(包括双胞胎研究)正在收集越来越多的谱系相关信息。迄今为止,迎合家庭数据的生物医学数据管理系统通常已经作为其标准(非以家庭为中心)数据模型的一部分进行了处理。因此,需要具有计算专业知识的数据管理器来提取家庭数据集并执行以家庭为中心的操作。我们提出了一种处理大型族数据集的可靠方法。我们的方法是作为一个新模块实施的,该模块扩展了Ark(基于Web的开源Web生物医学数据管理工具)的功能。使用作者设计的算法,谱系模块可以动态推断任何选定主题(不一定是先证者)的家庭关系。网络界面使研究人员可以创建,更新,删除和导航主题与批量导入/导出血统书之间的父母和双胞胎关系。可以捕获近亲关系,并生成可配置的谱系可视化。Web服务界面提供了互操作性。
更新日期:2018-04-05
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