Dulguunnaran Naranbat, Lothar À Brassard, Nabil Lawandy, Anubhav Tripathi
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引用次数: 0
摘要
全基因组测序(WGS)已成为诊断基因组变异的黄金标准。外周血是提取核酸用于下一代测序(NGS)的常见样本来源。在这里,我们介绍了一种集成式全自动设备设计,它利用流体力学、热质传递和酶反应热力学的新概念从血液中提取核酸,并从预填充板中进行 DNA 文库制备。我们证明,该装置能有效地从新鲜(4 °C)和冷冻(-20 °C)条件下储存的柠檬酸盐稳定人外周血中提取dsDNA,平均提取率分别为25.03 µg/mL和25.91 µg/mL。此外,我们的方法还能自动提取核酸,并在一次运行中同时从 8 个样本的柠檬酸盐和乙二胺四乙酸盐稳定的血液中创建高质量的可用于测序的 DNA 文库,总运行时间约为 7 小时。我们的结果显示了基因组所需的覆盖范围和深度,突出了该设备在处理用于基因组测序的血液样本中的重要应用。
Peripheral blood to next-generation sequencing ready DNA library: a novel engineering design for automation.
Whole genome sequencing (WGS) has become a gold standard for diagnosing genomic variation. Peripheral blood is a common sample source for the extraction of nucleic acids for Next-Generation Sequencing (NGS) applications. Here, we present an integrated and fully automated device design that uses new concepts of fluid mechanics, heat-mass transfer, and thermodynamics of enzymatic reactions to extract nucleic acids from the blood and perform DNA library preparation from a pre-filled plate. We demonstrate that the presented device effectively extracts dsDNA with an average of 25.03 µg/mL and 25.91 µg/mL yield from citrate-stabilized human peripheral blood stored in Fresh (4 °C) and Frozen (-20 °C) conditions, respectively. Furthermore, our method automatically extracts nucleic acids and creates a high-quality sequence-ready DNA library from blood stabilized with citrate and EDTA for 8 samples simultaneously in a single run with a total operation time of ~ 7 h. Our results show the required coverage and depth of the genome, highlighting an essential application of this device in processing blood samples for genome sequencing.
期刊介绍:
BMC Genomics is an open access, peer-reviewed journal that considers articles on all aspects of genome-scale analysis, functional genomics, and proteomics.
BMC Genomics is part of the BMC series which publishes subject-specific journals focused on the needs of individual research communities across all areas of biology and medicine. We offer an efficient, fair and friendly peer review service, and are committed to publishing all sound science, provided that there is some advance in knowledge presented by the work.