Sun Chen, Xu Jing, Tao Junxian, Dong Yu, Chen Haiyan, Jia Zhe, Ma Yingnan, Zhang Mingming, Wei Siyu, Tang Guoping, Lyu Hongchao, Jiang Yongshuai
College of Bioinformatics Science and Technology, Harbin Medical University, Harbin, China.
The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Zhejiang, China.
JMIR Form Res. 2022 Jun 23;6(6):e36914. doi: 10.2196/36914.
Pedigree data (family history) are indispensable for genetics studies and the assessment of individuals' disease susceptibility. With the popularity of genetics testing, the collection of pedigree data is becoming more common. However, it can be time-consuming, laborious, and tedious for clinicians to investigate all pedigree data for each patient. A self-service robot could inquire about patients' family history in place of professional clinicians or genetic counselors.
The aim of this study was to develop a mobile-based and self-service tool to collect and visualize pedigree data, not only for professionals but also for those who know little about genetics.
There are 4 main aspects in the iPed construction, including interface building, data processing, data storage, and data visualization. The user interface was built using HTML, JavaScript libraries, and Cascading Style Sheets (version 3; Daniel Eden). Processing of the submitted data is carried out by PHP programming language. MySQL is used to document and manage the pedigree data. PHP calls the R script to accomplish the visualization.
iPed is freely available to all users through the iPed website. No software is required to be installed, no pedigree files need to be prepared, and no knowledge of genetics or programs is required. The users can easily complete their pedigree data collection and visualization on their own and through a dialogue with iPed. Meanwhile, iPed provides a database that stores all users' information. Therefore, when the users need to construct new pedigree trees for other genetic traits or modify the pedigree trees that have already been created, unnecessary duplication of operations can be avoided.
iPed is a mobile-based and self-service tool that could be used by both professionals and nonprofessionals at any time and from any place. It reduces the amount of time required to collect, manage, and visualize pedigree data.
家系数据（家族史）对于遗传学研究和评估个体疾病易感性不可或缺。随着基因检测的普及，家系数据的收集变得越来越普遍。然而，临床医生为每位患者调查所有家系数据可能既耗时、费力又乏味。自助机器人可以代替专业临床医生或遗传咨询师询问患者的家族史。
本研究旨在开发一种基于移动设备的自助工具，用于收集和可视化家系数据，不仅供专业人员使用，也供那些对遗传学知之甚少的人使用。
iPed的构建主要有4个方面，包括界面构建、数据处理、数据存储和数据可视化。用户界面使用HTML、JavaScript库和层叠样式表（第3版；丹尼尔·伊登）构建。提交数据的处理由PHP编程语言完成。MySQL用于记录和管理家系数据。PHP调用R脚本完成可视化。
所有用户均可通过iPed网站免费使用iPed。无需安装软件，无需准备家系文件，也无需具备遗传学或程序方面的知识。用户可以通过与iPed对话轻松自行完成家系数据的收集和可视化。同时，iPed提供一个存储所有用户信息的数据库。因此，当用户需要为其他遗传特征构建新的家系树或修改已创建的家系树时，可以避免不必要的重复操作。
iPed是一种基于移动设备的自助工具，专业人员和非专业人员均可随时随地使用。它减少了收集、管理和可视化家系数据所需的时间。
