Thermo Fisher Scientific released the Precision ID Ancestry Panel, a 165-single-nucleotide polymorphism (SNP) panel for ancestry prediction that was initially compatible with the manufacturer’s massively parallel sequencer, the Ion Torrent Personal Genome Machine (PGM). The semiautomated workflow using the panel with the PGM involved several time-consuming manual steps across three instruments, including making templating solutions and loading sequencing chips. In 2014, the manufacturer released the Ion Chef robot, followed by the Ion S5 massively parallel sequencer in late 2015. The robot performs the templating with reagent cartridges and loads the chips, thus creating a fully automated workflow across two instruments. The objective of the work reported here is to compare the performance of two massively parallel sequencing systems and ascertain if the change in the workflow produces different ancestry predictions. For performance comparison of the two systems, forensic-type samples (n = 16) were used to make libraries. Libraries were templated either with the Ion OneTouch 2 system (for the PGM) or on the Ion Chef robot (for the S5). Sequencing results indicated that the ion sphere particle performance metrics were similar for the two systems. The total coverages per SNP and SNP quality were both higher for the S5 system. Ancestry predictions were concordant for the mock forensic-type samples sequenced on both massively parallel sequencing systems. The results indicated that automating the workflow with the Ion Chef system reduced the labor involved and increased the sequencing quality.

Thermo Fisher Scientific 发布了 Precision ID Ancestry Panel，这是一个用于祖先预测的 165 个单核苷酸多态性 (SNP) 面板，最初与制造商的大规模并行测序仪 Ion Torrent Personal Genome Machine (PGM) 兼容。使用面板和 PGM 的半自动化工作流程涉及三个仪器上的几个耗时的手动步骤，包括制作模板解决方案和加载测序芯片。2014 年，制造商发布了 Ion Chef 机器人，随后于 2015 年底发布了 Ion S5 大规模并行测序仪。机器人使用试剂盒执行模板并加载芯片，从而在两台仪器上创建了一个完全自动化的工作流程。这里报告的工作目的是比较两个大规模并行测序系统的性能，并确定工作流程的变化是否会产生不同的祖先预测。对于两个系统的性能比较，取证型样本（n = 16) 用于制作库。使用 Ion OneTouch 2 系统（用于 PGM）或 Ion Chef 机器人（用于 S5）对库进行模板化。测序结果表明，两个系统的离子球粒子性能指标相似。S5 系统的每个 SNP 和 SNP 质量的总覆盖率都更高。在两个大规模并行测序系统上测序的模拟法医样本的祖先预测是一致的。结果表明，使用 Ion Chef 系统实现工作流程自动化可以减少所涉及的劳动力并提高测序质量。