The diploid genome sequence of an Asian individual.
The diploid genome sequence of an Asian individual.
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亚洲个体的二倍体基因组序列
DOI：
10.1038/nature07484
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发表时间：
2008-11-06
期刊：
影响因子：
64.8
通讯作者：
Wang, Jian
中科院分区：
文献类型：
--
作者：
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;Zhu, Hongmei;Liu, Dongyuan;Lu, Zhike;Li, Ning;Guo, Guangwu;Zhang, Jianguo;Ye, Jia;Fang, Lin;Hao, Qin;Chen, Quan;Liang, Yu;Su, Yeyang;San, A.;Ping, Cuo;Yang, Shuang;Chen, Fang;Li, Li;Zhou, Ke;Zheng, Hongkun;Ren, Yuanyuan;Yang, Ling;Gao, Yang;Yang, Guohua;Li, Zhuo;Feng, Xiaoli;Kristiansen, Karsten;Wong, Gane Ka-Shu;Nielsen, Rasmus;Durbin, Richard;Bolund, Lars;Zhang, Xiuqing;Li, Songgang;Yang, Huanming;Wang, Jian
在此我们展示了首个亚洲个体的二倍体基因组序列。该基因组使用大规模平行测序技术测序至平均覆盖度为36倍。我们将短序列读段比对到美国国家生物技术信息中心（NCBI）的人类参考基因组上，覆盖度达到99.97%，并且在参考基因组的指导下，我们利用唯一比对上的读段为该亚洲个体92%的基因组组装出了高质量的一致性序列。我们在该区域内鉴定出了大约300万个单核苷酸多态性（SNP），其中13.6%不在dbSNP数据库中。基因分型分析表明SNP鉴定具有较高的准确性和一致性，这表明此次组装的序列质量较高。我们还针对国际人类基因组单体型图（HapMap）中的中国汉族（CHB）和日本（JPT）单体型进行了杂合子定相和单倍型预测，与两个已有的个体基因组（J. D. 沃森和J. C. 文特尔）进行了序列比较，并进行了结构变异鉴定。我们考虑了这些变异潜在的生物学影响。我们的序列数据和分析证明了下一代测序技术在个人基因组学中的潜在用途。
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.
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