高通量测序文库质量控制技术研究进展
收稿日期: 2023-10-23
修回日期: 2023-12-22
网络出版日期: 2024-01-05
Progress on the quality control technology of next generation sequencing library
Received date: 2023-10-23
Revised date: 2023-12-22
Online published: 2024-01-05
作为生命科学和医学领域中的关键性支撑技术，高通量测序已得到快速发展并日趋成熟。该技术工作流程可分为核酸提取、文库构建、上机测序、数据分析等，其中文库构建是承上启下的关键步骤，文库构建的效果受制于上游样品质量，同时会对测序数据产出后的数据分析造成影响。对文库构建质量控制技术的选择和实施是提高结果可靠性、降低测序数据误差的重要保证。本文对文库构建质量控制技术进行深入综述，总结评价其原理、优缺点、适用范围，并对实际应用场景中相关技术的选择进行了论述，以期为科研人员、疾病预防控制人员等在选择文库质量控制技术时提供理论依据与参考，从而促进高通量测序工作的质量和效率。
崔梦楠, 郭彦, 武雅蓉, 裴广倩, 崔玉军 . 高通量测序文库质量控制技术研究进展[J]. 遗传, 2024 , 46(2) : 140 -148 . DOI: 10.16288/j.yczz.23-262
As a key supporting technology in the fields of life sciences and medicine, high-throughput sequencing has developed rapidly and become increasingly mature. The workflow of this technology can be divided into nucleic acid extraction, library construction, sequencing, and data analysis. Among these, library construction is a pivotal step that bridges the previous and subsequent stages. The effectiveness of library construction is contingent on the quality of upstream samples and also impacts the data analysis following sequence data output. The selection and implementation of library construction quality control techniques are crucial for enhancing the reliability of results and reducing errors in sequencing data. This review provides an in-depth discussion of library construction quality control techniques, summarizing and evaluating their principles, advantages and disadvantages, and applicability. It also discusses the selection of relevant technologies in practical application scenarios. The aim is to offer theoretical foundations and references for researchers, disease prevention and control personnel, and others when choosing library quality control techniques, thereby promoting the quality and efficiency of high-throughput sequencing work.
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