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

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Documentation of clinically relevant genomic biomarker allele frequencies in the next-generation FINDbase worldwide database.
Human Mutation ( IF 3.3 ) Pub Date : 2020-04-14 , DOI: 10.1002/humu.24018
Fotios Kounelis ₁ , Alexandros Kanterakis _{2,

3} , Andreas Kanavos _{1,

3} , Maria-Theodora Pandi _{3,

4} , Zoe Kordou ₃ , Olivia Manusama ₅ , Gerasimos Vonitsanos _{1,

3} , Theodora Katsila ₃ , Evangelia-Eirini Tsermpini ₃ , Volker M Lauschke ₆ , Maria Koromina ₃ , Peter J van der Spek ₄ , George P Patrinos _{3,

4,

7,

8}

Affiliation

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.

中文翻译：

下一代 FINDbase 全球数据库中临床相关基因组生物标志物等位基因频率的文档。

FINDbase (http://www.findbase.org) 是一个综合数据资源，记录了全球不同人群中临床相关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，导致完全改造的数据库结构、查询界面，伴随着数据内容和管理的实质性扩展。特别是，FINDbase 升级通过引入支持各种移动和固定设备的响应功能进一步改善了用户体验，同时由于使用了 ReactJS 等现代 Javascript 框架而增强了计算运行时间。数据收集显着丰富，数据记录分为公共和私人版本，后者根据微归因方法在数据贡献的基础上访问，而前端经过重新设计以支持新功能和查询工具。上述更新进一步提升了 FINDbase 的影响力，改善了整体用户体验，促进了进一步的微归因数据共享，并加强了 FINDbase 作为个性化医疗应用和个性化公共卫生的关键资源的作用。

更新日期：2020-04-14

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