通过杂交捕获检测循环肿瘤 DNA 的方法学建立。

Methodology established for the detection of circulating tumor DNA by hybridization capture.

机构信息

Department of Research & Development, Shenzhen Shiningbiotek Co., Ltd., Shenzhen, Guangdong, 518053, China.

Department of General Surgery, Liyuan Hospital, Tongji, Medical College, Huazhong University of Science & Technology, Wuhan, Hubei, 430077, China.

出版信息

Biotechniques. 2022 Sep;73(3):151-158. doi: 10.2144/btn-2022-0029. Epub 2022 Sep 6.

DOI:10.2144/btn-2022-0029

PMID:36065956

Abstract

Roche's AVENIO ctDNA analysis kits and bioinformatics analysis (the AVENIO system) are accessible to all NGS laboratories. We have developed an approach, namely the Sec-Seq system, and compared the accuracy, sensitivity, repeatability and economic cost between the AVENIO system and the Sec-Seq system. Both methods share the comparable accuracy and sensitivity in detecting the variant allele frequency of 0.0005, while the Sec-Seq system shows better accuracy in detecting the variant allele frequency of 0.001. Furthermore, the Sec-Seq system displays a much better detection sensitivity than the AVENIO system. The Sec-Seq system has satisfactory performance in detecting the rare genetic variants in ctDNA with lower economic cost compared with the AVENIO system.

摘要

罗氏的 AVENIO ctDNA 分析试剂盒和生物信息学分析（AVENIO 系统）对所有 NGS 实验室开放。我们开发了一种方法，即 Sec-Seq 系统，并比较了 AVENIO 系统和 Sec-Seq 系统在准确性、灵敏度、重复性和经济成本方面的差异。两种方法在检测 0.0005 的变异等位基因频率时具有相当的准确性和灵敏度，而 Sec-Seq 系统在检测 0.001 的变异等位基因频率时具有更好的准确性。此外，Sec-Seq 系统比 AVENIO 系统具有更好的检测灵敏度。Sec-Seq 系统在检测 ctDNA 中的稀有遗传变异方面具有令人满意的性能，与 AVENIO 系统相比，具有较低的经济成本。