Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Division of Neurology, Atlanta VA Medical Center, Atlanta, GA, USA.
Genome Biol. 2018 Feb 6;19(1):14. doi: 10.1186/s13059-018-1387-3.
Accurately selecting relevant alleles in large sequencing experiments remains technically challenging. Bystro ( https://bystro.io/ ) is the first online, cloud-based application that makes variant annotation and filtering accessible to all researchers for terabyte-sized whole-genome experiments containing thousands of samples. Its key innovation is a general-purpose, natural-language search engine that enables users to identify and export alleles and samples of interest in milliseconds. The search engine dramatically simplifies complex filtering tasks that previously required programming experience or specialty command-line programs. Critically, Bystro's annotation and filtering capabilities are orders of magnitude faster than previous solutions, saving weeks of processing time for large experiments.
在大型测序实验中准确选择相关等位基因仍然具有技术挑战性。Bystro（https://bystro.io/）是第一个在线的、基于云的应用程序，它为所有研究人员提供了变体注释和过滤功能，可用于包含数千个样本的 terabyte 级别的全基因组实验。它的关键创新是一个通用的自然语言搜索引擎，使用户能够在几毫秒内识别和导出感兴趣的等位基因和样本。该搜索引擎极大地简化了以前需要编程经验或专用命令行程序才能完成的复杂过滤任务。至关重要的是，Bystro 的注释和过滤功能比以前的解决方案快几个数量级，为大型实验节省了数周的处理时间。
