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

机译:在下一代FindBase全球数据库中的临床相关基因组生物标志物等位基因频率的文献

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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.
机译:Abstract FindBase(http://www.findbase.org)是一个全面的数据资源,记录全世界各种群体中临床相关基因组变种的普遍性,例如遗传疾病的致病性变异以及可以引导药物治疗的药物替代品生物标志物。在这里,我们报告了数据库架构中的显着新的开发和技术进步,导致完全改造的数据库结构,查询接口,附带的数据内容和策序的大量扩展。特别是,FindBase升级通过引入支持各种移动设备和静止设备的响应功能来进一步提高用户体验,同时由于使用诸如RESTJS等现代JavaScript框架而增强计算运行时。数据收集是显着丰富的,数据记录在公共和私人版本中划分,后者根据微量探测方法基于数​​据贡献访问,而前端重新设计以支持新功能和查询工具。上述更新进一步增强了FindBase的影响,改善了整体用户体验,促进了通过微抗型的进一步的数据共享,并加强FindBase作为个性化医学应用和个性化公共卫生的关键资源的作用。

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