Yoon Jun-Hee, Kim Thomas W, Mendez Pedro, Jablons David M, Kim Il-Jin
Thoracic Oncology Laboratory, Department of Surgery, University of California San Francisco, San Francisco, California, United States of America.
Comprehensive Cancer Center, University of California San Francisco, San Francisco, California, United States of America.
PLoS One. 2017 Apr 12;12(4):e0174696. doi: 10.1371/journal.pone.0174696. eCollection 2017.
The development of next-generation sequencing (NGS) technology allows to sequence whole exomes or genome. However, data analysis is still the biggest bottleneck for its wide implementation. Most laboratories still depend on manual procedures for data handling and analyses, which translates into a delay and decreased efficiency in the delivery of NGS results to doctors and patients. Thus, there is high demand for developing an automatic and an easy-to-use NGS data analyses system. We developed comprehensive, automatic genetic analyses controller named Mobile Genome Express (MGE) that works in smartphones or other mobile devices. MGE can handle all the steps for genetic analyses, such as: sample information submission, sequencing run quality check from the sequencer, secured data transfer and results review. We sequenced an Actrometrix control DNA containing multiple proven human mutations using a targeted sequencing panel, and the whole analysis was managed by MGE, and its data reviewing program called ELECTRO. All steps were processed automatically except for the final sequencing review procedure with ELECTRO to confirm mutations. The data analysis process was completed within several hours. We confirmed the mutations that we have identified were consistent with our previous results obtained by using multi-step, manual pipelines.
下一代测序(NGS)技术的发展使得对整个外显子组或基因组进行测序成为可能。然而,数据分析仍然是其广泛应用的最大瓶颈。大多数实验室在数据处理和分析方面仍依赖手工操作,这导致向医生和患者提供NGS结果出现延迟且效率降低。因此,开发一个自动化且易于使用的NGS数据分析系统的需求很高。我们开发了一个名为移动基因组快车(MGE)的综合自动化基因分析控制器,它可在智能手机或其他移动设备上运行。MGE能够处理基因分析的所有步骤,例如:样本信息提交、测序仪测序运行质量检查、安全数据传输以及结果审查。我们使用靶向测序面板对含有多种已证实的人类突变的Actrometrix对照DNA进行了测序,整个分析由MGE及其名为ELECTRO的数据审查程序管理。除了使用ELECTRO进行最终测序审查程序以确认突变外,所有步骤均自动处理。数据分析过程在数小时内完成。我们确认所鉴定的突变与我们之前使用多步骤手工流程获得的结果一致。