Abstract：
DNA sequencers have become increasingly important research and diagnostic tools over the past 20 years. In this study, we developed a single-molecule desktop sequencer, GenoCare 1600 (GenoCare), which utilizes amplification-free library preparation and two-color sequencing-by-synthesis chemistry, making it more user-friendly compared with previous single-molecule sequencing platforms for clinical use. Using the GenoCare platform, we sequenced an Escherichia coli standard sample and achieved a consensus accuracy exceeding 99.99%. We also evaluated the sequencing performance of this platform in microbial mixtures and coronavirus disease 2019 (COVID-19) samples from throat swabs. Our findings indicate that the GenoCare platform allows for microbial quantitation, sensitive identification of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus, and accurate detection of virus mutations, as confirmed by Sanger sequencing, demonstrating its remarkable potential in clinical application.
摘要：
在过去的20年里，DNA测序仪已经成为越来越重要的研究和诊断工具。在这项研究中,我们开发了一种单分子台式测序仪,GenoCare1600(GenoCare),利用无扩增文库制备和双色合成测序，与以前的临床使用的单分子测序平台相比，使其更加用户友好。使用GenoCare平台，我们对大肠杆菌标准样品进行了测序,一致准确率超过99.99%.我们还评估了该平台在来自咽拭子的微生物混合物和2019年冠状病毒病（COVID-19）样品中的测序性能。我们的研究结果表明，GenoCare平台允许微生物定量，对严重急性呼吸综合征冠状病毒2（SARS-CoV-2）病毒的敏感鉴定，以及病毒变异的准确检测,正如桑格测序所证实的，证明了其在临床应用中的巨大潜力。
