MosaicHunter: accurate detection of postzygotic single-nucleotide   mosaicism through next-generation sequencing of unpaired, trio, and   paired samples

doi:10.1093/nar/gkx024

CORC > 北京大学 > 生命科学学院

	MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples
	Huang, August Yue ; Zhang, Zheng ; Ye, Adam Yongxin ; Dou, Yanmei ; Yan, Linlin ; Yang, Xiaoxu ; Zhang, Yuehua ; Wei, Liping
刊名	NUCLEIC ACIDS RESEARCH
	2017
关键词	MONOZYGOTIC TWINS DISCORDANT SOMATIC POINT MUTATIONS HUMAN CANCER GENOMES DE-NOVO MUTATIONS WHOLE-GENOME COPY NUMBER CLONAL HEMATOPOIESIS HUMAN TISSUES VARIANT IDENTIFICATION
DOI	10.1093/nar/gkx024
英文摘要	Genomic mosaicism arising from postzygotic mutations has long been associated with cancer and more recently with non-cancer diseases. It has also been detected in healthy individuals including healthy parents of children affected with genetic disorders, highlighting its critical role in the origin of genetic mutations. However, most existing software for the genome-wide identification of single-nucleotide mosaicisms (SNMs) requires a paired control tissue obtained from the same individual which is often unavailable for non-cancer individuals and sometimes missing in cancer studies. Here, we present MosaicHunter (http://mosaichunter.cbi.pku.edu.cn), a bioinformatics tool that can identify SNMs in whole-genome and whole-exome sequencing data of unpaired samples without matched controls using Bayesian genotypers. We evaluate the accuracy of MosaicHunter on both simulated and real data and demonstrate that it has improved performance compared with other somatic mutation callers. We further demonstrate that incorporating sequencing data of the parents can be an effective approach to significantly improve the accuracy of detecting SNMs in an individual when a matched control sample is unavailable. Finally, MosaicHunter also has a paired mode that can take advantage of matched control samples when available, making it a useful tool for detecting SNMs in both non-cancer and cancer studies.; National Natural Science Foundation of China [31530092, 81171221]; Ministry of Science and Technology 863 Grant [2015AA020108]; Peking University Clinical Cooperation '985 Project' [PKU-2014-1-1, PKU-2013-1-06]; SCI(E); ARTICLE; 10; 45
语种	英语
内容类型	期刊论文
源URL	[http://ir.pku.edu.cn/handle/20.500.11897/472906]
专题	生命科学学院
推荐引用方式 GB/T 7714	Huang, August Yue,Zhang, Zheng,Ye, Adam Yongxin,et al. MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples[J]. NUCLEIC ACIDS RESEARCH,2017.
APA	Huang, August Yue.,Zhang, Zheng.,Ye, Adam Yongxin.,Dou, Yanmei.,Yan, Linlin.,...&Wei, Liping.(2017).MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples.NUCLEIC ACIDS RESEARCH.
MLA	Huang, August Yue,et al."MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples".NUCLEIC ACIDS RESEARCH (2017).