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The diploid genome sequence of an Asian individual

Nature, 2008-11, Vol.456 (7218), p.60-65 [Peer Reviewed Journal]

COPYRIGHT 2008 Nature Publishing Group ;COPYRIGHT 2008 Nature Publishing Group ;Copyright Nature Publishing Group Nov 6, 2008 ;2008 Macmillan Publishers Limited. All rights reserved 2008 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;EISSN: 1476-4679 ;DOI: 10.1038/nature07484 ;PMID: 18987735 ;CODEN: NATUAS

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Title:
The diploid genome sequence of an Asian individual
Author: 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
Subjects: Accuracy ; Alleles ; Animals ; Asian Continental Ancestry Group - genetics ; Asian people ; Asians ; Biomedical research ; Consensus Sequence ; Data entry ; Databases, Genetic ; Diploidy ; Genetic aspects ; Genetic disorders ; Genetic Predisposition to Disease - genetics ; Genetic research ; Genetics ; Genome, Human - genetics ; Genomics ; Genotype & phenotype ; Haplotypes - genetics ; Humans ; Internet ; Methods ; Pan troglodytes - genetics ; Phenotype ; Polymorphism, Single Nucleotide - genetics ; Sensitivity and Specificity ; Sequence Alignment
Is Part Of: Nature, 2008-11, Vol.456 (7218), p.60-65
Description: 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.
Publisher: England: Nature Publishing Group
Language: English
Identifier: ISSN: 0028-0836
EISSN: 1476-4687
EISSN: 1476-4679
DOI: 10.1038/nature07484
PMID: 18987735
CODEN: NATUAS
Source: ProQuest One Psychology
AUTh Library subscriptions: ProQuest Central
MEDLINE
Alma/SFX Local Collection

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The diploid genome sequence of an Asian individual

COPYRIGHT 2008 Nature Publishing Group ;COPYRIGHT 2008 Nature Publishing Group ;Copyright Nature Publishing Group Nov 6, 2008 ;2008 Macmillan Publishers Limited. All rights reserved 2008 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;EISSN: 1476-4679 ;DOI: 10.1038/nature07484 ;PMID: 18987735 ;CODEN: NATUAS

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