The diploid genome sequence of an Asian individual

doi:10.1038/nature07484

CORC > 北京大学 > 生命科学学院

	The diploid genome sequence of an Asian individual
	Wang, Jun ; Wang, Wei ; Li, Ruiqiang ; Li, Yingrui ; Tian, Geng ; Goodman, Laurie ; Fan, Wei ; Zhang, Junqing ; Li, Jun ; Zhang, Juanbin ; Guo, Yiran ; Feng, Binxiao ; Li, Heng ; Lu, Yao ; Fang, Xiaodong ; Liang, Huiqing ; Du, Zhenglin ; Li, Dong ; Zhao, Yiqing ; Hu, Yujie ; Yang, Zhenzhen ; Zheng, Hancheng ; Hellmann, Ines ; Inouye, Michael ; Pool, John ; Yi, Xin ; Zhao, Jing ; Duan, Jinjie ; Zhou, Yan ; Qin, Junjie ; Ma, Lijia ; Li, Guoqing ; Yang, Zhentao ; Zhang, Guojie ; Yang, Bin ; Yu, Chang ; Liang, Fang ; Li, Wenjie ; Li, Shaochuan ; Li, Dawei ; Ni, Peixiang ; Ruan, Jue ; Li, Qibin
刊名	nature
	2008
关键词	STRUCTURAL VARIATION REVEALS DISEASE DNA
DOI	10.1038/nature07484
英文摘要	Here we present the first diploid genome sequence of an Asian individual. The genome was sequenced to 36- fold average coverage using massively parallel sequencing technology. We aligned the short reads onto the NCBI human reference genome to 99.97% coverage, and guided by the reference genome, we used uniquely mapped reads to assemble a high- quality consensus sequence for 92% of the Asian individual's genome. We identified approximately 3 million single- nucleotide polymorphisms ( SNPs) inside this region, of which 13.6% were not in the dbSNP database. Genotyping analysis showed that SNP identification had high accuracy and consistency, indicating the high sequence quality of this assembly. We also carried out heterozygote phasing and haplotype prediction against HapMap CHB and JPT haplotypes ( Chinese and Japanese, respectively), sequence comparison with the two available individual genomes ( J. D. Watson and J. C. Venter), and structural variation identification. These variations were considered for their potential biological impact. Our sequence data and analyses demonstrate the potential usefulness of next- generation sequencing technologies for personal genomics.; Multidisciplinary Sciences; SCI(E); 504; ARTICLE; 7218; 60-U1; 456
语种	英语
内容类型	期刊论文
源URL	[http://ir.pku.edu.cn/handle/20.500.11897/397109]
专题	生命科学学院
推荐引用方式 GB/T 7714	Wang, Jun,Wang, Wei,Li, Ruiqiang,et al. The diploid genome sequence of an Asian individual[J]. nature,2008.
APA	Wang, Jun.,Wang, Wei.,Li, Ruiqiang.,Li, Yingrui.,Tian, Geng.,...&Li, Qibin.(2008).The diploid genome sequence of an Asian individual.nature.
MLA	Wang, Jun,et al."The diploid genome sequence of an Asian individual".nature (2008).