Ultrasensitive and high-efficiency screen of de novo low-frequency mutations by o2n-seq

文献类型： 外文期刊

第一作者： Wang, Kaile

作者： Wang, Kaile;Ruan, Jue;Wang, Kaile;Lai, Shujuan;Lu, Xuemei;Wu, Chung-I;Wang, Kaile;Yang, Xiaoxu;Zhu, Tianqi;Zhu, Tianqi;Wu, Chung-I;Wu, Chung-I

作者机构：

期刊名称：NATURE COMMUNICATIONS （ 影响因子：14.919； 五年影响因子：15.805 ）

ISSN： 2041-1723

年卷期： 2017 年 8 卷

页码：

收录情况： SCI

摘要： Detection of de novo, low-frequency mutations is essential for characterizing cancer genomes and heterogeneous cell populations. However, the screening capacity of current ultrasensitive NGS methods is inadequate owing to either low-efficiency read utilization or severe amplification bias. Here, we present o2n-seq, an ultrasensitive and high-efficiency NGS library preparation method for discovering de novo, low-frequency mutations. O2n-seq reduces the error rate of NGS to 10(-5-)10(-8). The efficiency of its data usage is about 10-30 times higher than that of barcode-based strategies. For detecting mutations with allele frequency (AF) 1% in 4.6 Mb-sized genome, the sensitivity and specificity of o2n-seq reach to 99% and 98.64%, respectively. For mutations with AF around 0.07% in phix174, o2n-seq detects all the mutations with 100% specificity. Moreover, we successfully apply o2n-seq to screen de novo, low-frequency mutations in human tumours. O2n-seq will aid to characterize the landscape of somatic mutations in research and clinical settings.

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