Genomics has emerged as one of the major sources of big data. The task of augmenting data-driven challenges into bioinformatics can be met using technologies of parallel and distributed computing. GATK4 tools for genomic variants detection are enabled for high-performance computing platforms -SPARK Map Reduce framework. GATK4+WDL+CROMWELL+SPARK+DOCKER is proposed as the way forward in achieving automation, reproducibility, reusability, customization, portability and scalability. SPARK-based tools perform equally well in genomic variants detection with that of standard implementation of GATK4 tools over a command-line interface. Implementation of workflows over cloud-based high-performance computing platforms will enhance usability and will be a way forward in community research and infrastructure development for genomic variant discovery.

中文翻译：

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基因组变异调用的实现：一种新方法

基因组学已经成为大数据的主要来源之一。使用并行和分布式计算技术可以满足将数据驱动的挑战扩展到生物信息学中的任务。已为高性能计算平台-SPARK Map Reduce框架启用了用于基因组变异检测的GATK4工具。提出了GATK4 + WDL + CROMWELL + SPARK + DOCKER作为实现自动化，可重复性，可重用性，可定制性，可移植性和可扩展性的前进方向。基于SPARK的工具在基因组变体检测中的性能与通过命令行界面进行GATK4工具的标准实现的性能相同。通过基于云的高性能计算平台实施工作流将提高可用性，并将成为社区研究和基础设施开发中基因组变异发现的一种方式。