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

doi:10.1038/ncomms15335

CSpace > 应用数学研究所

	Ultrasensitive and high-efficiency screen of de novo low-frequency mutations by o2n-seq
	Wang, Kaile 1,2,3; Lai, Shujuan 2; Yang, Xiaoxu 4; Zhu, Tianqi5,6 ; Lu, Xuemei 2; Wu, Chung-I 2,7,8; Ruan, Jue 1
	2017-05-22
发表期刊	NATURE COMMUNICATIONS
ISSN	2041-1723
卷号	8 页码:11
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.
DOI	10.1038/ncomms15335
语种	英语
资助项目	Chinese Academy of Sciences[XDB13040300] ; National key research and development program of China[2016YFC1200602] ; Fund of Key Laboratory of Shenzhen[ZDSYS20141118170111640] ; National Key Basic Research Program of China[2014CB542006] ; Natural Science Foundation of China[91531305] ; Natural Science Foundation of China[31571353] ; Agricultural Science and Technology Innovation Program (ASTIP)
WOS研究方向	Science & Technology - Other Topics
WOS类目	Multidisciplinary Sciences
WOS记录号	WOS:000401907100002
出版者	NATURE PUBLISHING GROUP
引用统计
文献类型	期刊论文
条目标识符	http://ir.amss.ac.cn/handle/2S8OKBNM/25331
专题	应用数学研究所
通讯作者	Wu, Chung-I; Ruan, Jue
作者单位	1.Chinese Acad Agr Sci, Agr Genom Inst, Pengfei Rd 7, Shenzhen 518120, Guangdong, Peoples R China 2.Chinese Acad Sci, Beijing Inst Genom, Key Lab Genom & Precis Med, Beijing 100101, Peoples R China 3.Univ Chinese Acad Sci, Beijing 100049, Peoples R China 4.Peking Univ, Sch Life Sci, Ctr Bioinformat, State Key Lab Prot & Plant Gene Res, Beijing 100871, Peoples R China 5.Chinese Acad Sci, Acad Math & Syst Sci, Inst Appl Math, Beijing 100190, Peoples R China 6.Chinese Acad Sci, Acad Math & Syst Sci, Key Lab Random Complex Struct & Data Sci, Beijing 100190, Peoples R China 7.Sun Yat Sen Univ, Sch Life Sci, State Key Lab Biocontrol, Guangzhou, Guangdong, Peoples R China 8.Univ Chicago, Dept Ecol & Evolut, 940 E 57Th St, Chicago, IL 60637 USA
推荐引用方式 GB/T 7714	Wang, Kaile,Lai, Shujuan,Yang, Xiaoxu,et al. Ultrasensitive and high-efficiency screen of de novo low-frequency mutations by o2n-seq[J]. NATURE COMMUNICATIONS,2017,8:11.
APA	Wang, Kaile.,Lai, Shujuan.,Yang, Xiaoxu.,Zhu, Tianqi.,Lu, Xuemei.,...&Ruan, Jue.(2017).Ultrasensitive and high-efficiency screen of de novo low-frequency mutations by o2n-seq.NATURE COMMUNICATIONS,8,11.
MLA	Wang, Kaile,et al."Ultrasensitive and high-efficiency screen of de novo low-frequency mutations by o2n-seq".NATURE COMMUNICATIONS 8(2017):11.