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在下一代 FINDbase 全球数据库中记录与临床相关的基因组生物标志物等位基因频率。

Documentation of clinically relevant genomic biomarker allele frequencies in the next-generation FINDbase worldwide database.

机构信息

Department of Computer Engineering and Informatics, Faculty of Engineering, University of Patras, Patras, Greece.

Biomedical Informatics Laboratory, Foundation of Research and Technology Hellas, Heraklion, Greece.

出版信息

Hum Mutat. 2020 Jun;41(6):1112-1122. doi: 10.1002/humu.24018. Epub 2020 Apr 14.

Abstract

FINDbase (http://www.findbase.org) is a comprehensive data resource recording the prevalence of clinically relevant genomic variants in various populations worldwide, such as pathogenic variants underlying genetic disorders as well as pharmacogenomic biomarkers that can guide drug treatment. Here, we report significant new developments and technological advancements in the database architecture, leading to a completely revamped database structure, querying interface, accompanied with substantial extensions of data content and curation. In particular, the FINDbase upgrade further improves the user experience by introducing responsive features that support a wide variety of mobile and stationary devices, while enhancing computational runtime due to the use of a modern Javascript framework such as ReactJS. Data collection is significantly enriched, with the data records being divided in a Public and Private version, the latter being accessed on the basis of data contribution, according to the microattribution approach, while the front end was redesigned to support the new functionalities and querying tools. The abovementioned updates further enhance the impact of FINDbase, improve the overall user experience, facilitate further data sharing by microattribution, and strengthen the role of FINDbase as a key resource for personalized medicine applications and personalized public health.

摘要

FINDbase(http://www.findbase.org)是一个综合性的数据资源库,记录了全球各种人群中与临床相关的基因组变异的流行情况,例如遗传疾病的致病变异以及可以指导药物治疗的药物基因组生物标志物。在这里,我们报告了数据库架构的重大新发展和技术进步,导致数据库结构、查询界面进行了全面彻底的更新,并对数据内容和管理进行了大量扩展。特别是,FINDbase 的升级通过引入支持各种移动和固定设备的响应式功能进一步改善了用户体验,同时由于使用了 ReactJS 等现代 JavaScript 框架,还提高了计算运行时的效率。数据收集得到了极大的丰富,数据记录分为公共版本和私有版本,后者根据微归因方法,根据数据贡献进行访问,前端也进行了重新设计,以支持新的功能和查询工具。上述更新进一步增强了 FINDbase 的影响力,提高了整体用户体验,通过微归因促进了进一步的数据共享,并加强了 FINDbase 在个性化医学应用和个性化公共卫生方面的关键资源的作用。

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