作者
Ira W Deveson, Binsheng Gong, Kevin Lai, Jennifer S LoCoco, Todd A Richmond, Jeoffrey Schageman, Zhihong Zhang, Natalia Novoradovskaya, James C Willey, Wendell Jones, Rebecca Kusko, Guangchun Chen, Bindu Swapna Madala, James Blackburn, Igor Stevanovski, Ambica Bhandari, Devin Close, Jeffrey Conroy, Michael Hubank, Narasimha Marella, Piotr A Mieczkowski, Fujun Qiu, Robert Sebra, Daniel Stetson, Lihyun Sun, Philippe Szankasi, Haowen Tan, Lin-ya Tang, Hanane Arib, Hunter Best, Blake Burgher, Pierre R Bushel, Fergal Casey, Simon Cawley, Chia-Jung Chang, Jonathan Choi, Jorge Dinis, Daniel Duncan, Agda Karina Eterovic, Liang Feng, Abhisek Ghosal, Kristina Giorda, Sean Glenn, Scott Happe, Nathan Haseley, Kyle Horvath, Li-Yuan Hung, Mirna Jarosz, Garima Kushwaha, Dan Li, Quan-Zhen Li, Zhiguang Li, Liang-Chun Liu, Zhichao Liu, Charles Ma, Christopher E Mason, Dalila B Megherbi, Tom Morrison, Carlos Pabón-Peña, Mehdi Pirooznia, Paula Z Proszek, Amelia Raymond, Paul Rindler, Rebecca Ringler, Andreas Scherer, Rita Shaknovich, Tieliu Shi, Melissa Smith, Ping Song, Maya Strahl, Venkat J Thodima, Nikola Tom, Suman Verma, Jiashi Wang, Leihong Wu, Wenzhong Xiao, Chang Xu, Mary Yang, Guangliang Zhang, Sa Zhang, Yilin Zhang, Leming Shi, Weida Tong, Donald J Johann Jr, Timothy R Mercer, Joshua Xu, SEQC2 Oncopanel Sequencing Working Group
发表日期
2021/9
期刊
Nature biotechnology
卷号
39
期号
9
页码范围
1115-1128
出版商
Nature Publishing Group US
简介
Circulating tumor DNA (ctDNA) sequencing is being rapidly adopted in precision oncology, but the accuracy, sensitivity and reproducibility of ctDNA assays is poorly understood. Here we report the findings of a multi-site, cross-platform evaluation of the analytical performance of five industry-leading ctDNA assays. We evaluated each stage of the ctDNA sequencing workflow with simulations, synthetic DNA spike-in experiments and proficiency testing on standardized, cell-line-derived reference samples. Above 0.5% variant allele frequency, ctDNA mutations were detected with high sensitivity, precision and reproducibility by all five assays, whereas, below this limit, detection became unreliable and varied widely between assays, especially when input material was limited. Missed mutations (false negatives) were more common than erroneous candidates (false positives), indicating that the reliable sampling of rare …
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