基于基因组学的诊断数据处理的事件驱动架构

Thomas Krause, Mike Zickfeld, Sebastian Bruchhaus, Thoralf Reis, M. X. Bornschlegl, P. Buono, Michael Kramer, Paul Mc Kevitt, M. Hemmje
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摘要

基于基因组学的诊断数据(GBDD)对实验室诊断越来越重要。由于数据量大,数据的异质性,GBDD面临着大数据的挑战。目前GBDD的分析工具主要是为研究而设计的,不能满足实验室诊断对自动化、可靠性、透明度、可重复性、稳健性和可及性的要求。这使得实验室难以在需要根据监管框架进行验证的测试中使用这些工具,也难以以时间和成本效益高的方式执行测试。为了更好地满足这些需求,我们提出了一个基于事件驱动工作流的架构,作为使用容器技术和微服务的高度可伸缩处理平台的基础。已经开发并评估了这种方法的原型实现,称为GenomicInsights,以证明其在实验室诊断中的可行性和适用性。
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An Event-Driven Architecture for Genomics-Based Diagnostic Data Processing
Genomics-based diagnostic data (GBDD) are becoming increasingly important for laboratory diagnostics. Due to the large quantity of data and their heterogeneity, GBDD poses a big data challenge. Current analysis tools for GBDD are primarily designed for research and do not meet the requirements of laboratory diagnostics for automation, reliability, transparency, reproducibility, robustness, and accessibility. This makes it difficult for laboratories to use these tools in tests that need to be validated according to regulatory frameworks and to execute tests in a time- and cost-efficient manner. In order to better address these requirements, we propose an event-driven workflow-based architecture as the basis for a processing platform that is highly scalable using container technologies and microservices. A prototype implementation of this approach, called GenomicInsights, has been developed and evaluated to demonstrate its feasibility and suitability for laboratory diagnostics.
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