Standardization and quality management in next-generation sequencing.
Standardization and quality management in next-generation sequencing.
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DOI：
10.1016/j.atg.2016.06.001
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发表时间：
2016-09
期刊：
影响因子：
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通讯作者：
Frohme, Marcus
中科院分区：
文献类型：
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作者：
Endrullat, Christoph;Glokler, Jorn;Franke, Philipp;Frohme, Marcus
DNA测序在超过30年后仍在快速发展。许多新的平台突然出现，以前建立的系统几乎以同样的方式消失。自下一代测序设备建立以来，由于对更高通量、更低成本和更好数据质量的需求不断增长，这一进展获得了动力。由于这一快速发展，标准化程序和数据格式以及全面的质量管理考虑仍然很少。在这里，我们以已发表的研究和正在进行的项目的形式列出并总结了公司、组织和协会目前的标准化工作和质量管理举措。一方面，这些包括质量文件问题，如技术说明、认证清单和测序工作流程验证指南。另一方面，一般的标准建议和质量指标的开发和应用程序的排序工作流程的步骤，主要集中在上游过程。最后，简要讨论了下游管道数据处理、加工和存储的某些标准发展。这些标准化方法代表了继续工作的第一个基础，以便在重要领域（如临床诊断）前瞻性地实施下一代测序，其中可靠的结果和快速处理至关重要。此外，这些努力将对序列数据的可追溯性和再现性产生决定性影响。
DNA sequencing continues to evolve quickly even after > 30 years. Many new platforms suddenly appeared and former established systems have vanished in almost the same manner. Since establishment of next-generation sequencing devices, this progress gains momentum due to the continually growing demand for higher throughput, lower costs and better quality of data. In consequence of this rapid development, standardized procedures and data formats as well as comprehensive quality management considerations are still scarce. Here, we listed and summarized current standardization efforts and quality management initiatives from companies, organizations and societies in form of published studies and ongoing projects. These comprise on the one hand quality documentation issues like technical notes, accreditation checklists and guidelines for validation of sequencing workflows. On the other hand, general standard proposals and quality metrics are developed and applied to the sequencing workflow steps with the main focus on upstream processes. Finally, certain standard developments for downstream pipeline data handling, processing and storage are discussed in brief. These standardization approaches represent a first basis for continuing work in order to prospectively implement next-generation sequencing in important areas such as clinical diagnostics, where reliable results and fast processing is crucial. Additionally, these efforts will exert a decisive influence on traceability and reproducibility of sequence data.