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The diploid genome sequence of an Asian individual
Open accessAbstract
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. The power of the latest massively parallel synthetic DNA sequencing technologies is demonstrated in two major collaborations that shed light on the nature of genomic variation with ethnicity. The first describes the genomic characterization of an individual from the Yoruba ethnic group of west Africa. The second reports a personal genome of a Han Chinese, the group comprising 30% of the world's population. These new resources can now be used in conjunction with the Venter, Watson and NIH reference sequences. A separate study looked at genetic ethnicity on the continental scale, based on data from 1,387 individuals from more than 30 European countries. Overall there was little genetic variation between countries, but the differences that do exist correspond closely to the geographic map. Statistical analysis of the genome data places 50% of the individuals within 310 km of their reported origin. As well as its relevance for testing genetic ancestry, this work has implications for evaluating genome-wide association studies that link genes with diseases.
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“In contrast, Illumina transcriptome or genome sequencing was mainly limited to organisms with reference genomes available [14,51-53].”
From De novo assembly and characterization of root transcriptome using Illumina paired-end sequencing and development of cSSR markers in sweetpotato (Ipomoea batatas) (2010) · cites this paper as [14]
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“High coverage 11,12 permitted the identification of 2.2 million heterozygous single-nucleotide variants (SNVs) within the sequenced individual (Supplementary Figs. 5 and 6 and Supplementary Tables 7 and 8).”
From The yak genome and adaptation to life at high altitude (2012) · cites this paper as [12]
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“The newly developed high throughput sequencing technology, i.e. Next Generation Sequencing (NGS), including the Roche/454 Genome Sequencer FLX Instrument, the ABI SOLiD System, and the Illumina Genome Analyser, is a powerful and cost-efficient tool for advanced research in many areas, including re-sequencing, microRNA expression profiling, DNA methylation, especially de novo transcriptome”
From De novo assembly and characterization of root transcriptome using Illumina paired-end sequencing and development of cSSR markers in sweetpotato (Ipomoea batatas) (2010) · cites this paper as [14]
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Self-citationRare and Common Regulatory Variation in Population-Scale Sequenced Human Genomes
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“Sui cient numbers of sequence fragments (reads) are obtained (>75x ef ective genome coverage, determined as described below) to comprehensively cover the genomes of the sequenced samples (Clarke and Carbon, 1976; Wang et al., 2008; Ajay et al., 2011).”
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The genome sequence of the spontaneously hypertensive rat: Analysis and functional significancePreprint
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“4%) and the lowest (median) sequence depth (28-fold) in the YH genome (34), hence constraining the quality of the final sequence.”
BackgroundA draft genome assembly of the army worm, Spodoptera frugiperda
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“Introduction Sequence analysis of the human diploid genome estimates that human populations are 99.5% identical at the DNA level (Levy et al., 2007; J. Wang et al., 2008).”
BackgroundInfluentialSeqWare Query Engine: storing and searching sequence data in the cloud
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BackgroundPopulation-Genetic Properties of Differentiated Human Copy-Number Polymorphisms
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“Lean storage formats should also facilitate the ability to rapidly determine where a de novo sequence differs from a known reference summary of genetic variants for a group of sequences of interest (Fig.”
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“However, data in this study and in previous studies [35] have indicated an almost linear correlation between the SNP detection rate and sequencing depth in this sequence depth range, suggesting that low sequencing depth only partially explains the low SNP frequency found on the X chromosome.”
BackgroundResultUsing bioinformatics to predict the functional impact of SNVs
Cline, M., & Karchin, R. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq695 · Cited by 91
“There is increasing interest in bioinformatics approaches to identify variants that are functionally important from millions of candidate variants.”
BackgroundDesign of association studies with pooled or un‐pooled next‐generation sequencing data
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“In this paper, we present cost-effective protocols for using next-generation sequencing in association mapping studies based on pooled and un-pooled samples, and identify optimal designs with respect to total number of individuals, number of individuals per pool, and the sequencing coverage.”
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“Next-generation sequencing has since been adapted to the study of a wide range of nucleic acid populations, including mRNA (RNA-seq) [2], small RNA (sRNA) [3], microRNA (miRNA)-directed mRNA cleavage sites (called parallel analysis of RNA ends (PARE), genome-wide mapping of uncapped transcripts (GMUCT) or degradome se…”
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“Human genome variation is of particular interest for medical and evolutionary studies, and a dozen human genome sequences have thus far been determined using resequencing methods [18-24].”
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“Numerous recent human genome resequencing projects have performed a diploid assembly where both chromosomes are described [45,46].”
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“large genomes have already been assembled from short reads or from a combination of short and traditional Sanger reads [1–5].”
BackgroundBioinformatics tools and databases for analysis of next-generation sequence data
Lee, H. C., Lai, K., Lorenc, M. T., Imelfort, M., Duran, C., & Edwards, D. (2011) · Briefings in Functional Genomics · doi:10.1093/bfgp/elr037 · Cited by 86
“SOAPdenovo has been successfully applied to a number of high profile genome sequencing projects including the Giant Panda genome sequencing project [20] and the sequencing of the genome of an Asian individual [21] to crops such as Brassica rapa [22].”
BackgrounddeBGA: read alignment with de Bruijn graph-based seed and extension
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A comprehensively molecular haplotype-resolved genome of a European individualPreprint
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MethodKawahara‐Miki, R., Tsuda, K., Shiwa, Y., Arai-Kichise, Y., Matsumoto, T., Kanesaki, Y., Oda, S.-I., Ebihara, S., Yajima, S., Yoshikawa, H., et al. (2011) · BMC Genomics · doi:10.1186/1471-2164-12-103 · Cited by 85
“3%, which was higher than that of any other previous studies of whole-genome resequencing in humans and cattle [6,10-15].”
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“The Illumina–Solexa solid-phase DNA sequencing system is a powerful massively parallel system whose ability to sequence DNA has been demonstrated (37).”
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Self-citationThe chemistry of next-generation sequencing
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“The first human genomes were then sequenced using Solexa–Illumina NGS technology 11,12 .”
MethodGenetics of neurodegenerative diseases: insights from high-throughput resequencing
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“The SNVs available for each of the individual genomes were obtained through comparison to hg18 (Levy et al. 2007; Bentley et al. 2008; Wang et al. 2008), so if an individual happens to be homozygous for the derived allele at a site that is polymorphic in the human population but where hg18 also…”
InfluentialShen, H., Li, J., Zhang, J., Xu, C., Jiang, Y., Wu, Z., Zhao, F., Liao, L., Chen, J., Lin, Y., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0059494 · Cited by 82
“The limited overlap of indels identified between different data sets or between different individual genomes has been previously recognized [11,12,15,25].”
BackgroundSelf-citationKRGDB: the large-scale variant database of 1722 Koreans based on whole genome sequencing
Jung, K. S., Hong, K., Jo, H. Y., Choi, J., Ban, H., Cho, S. B., & Chung, M. (2020) · Database · doi:10.1093/database/baz146 · Cited by 77
HUPAN: a pan-genome analysis pipeline for human genomes
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Self-citationExome Sequencing of a Multigenerational Human Pedigree
Hedges, D., Burges, D., Powell, E., Almonte, C., Huang, J., Young, S., Boese, B., Schmidt, M., Pericak-Vance, M. A., Martin, E., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0008232 · Cited by 76
Self-citationDiagnostic Applications of High-Throughput DNA Sequencing
Boyd, S. D. (2012) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev-pathol-020712-164026 · Cited by 78
A novel compression tool for efficient storage of genome resequencing data
Wang, C., & Zhang, D. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr009 · Cited by 81
Clinical Interpretation and Management of Genetic Variants
Marian, A. J. (2020) · JACC Basic to Translational Science · doi:10.1016/j.jacbts.2020.05.013 · Cited by 79
“The number of indels in each genome vary from 100,000 to 1,000,000, depending the definition used (12,13,33).”
Cytochrome P-450 polymorphisms and response to clopidogrel
Marian, A. J. (2009) · Current Atherosclerosis Reports · doi:10.1007/s11883-009-0025-7 · Cited by 77
Epigenomics in cancer management
Costa, F. F. (2010) · Cancer Management and Research · doi:10.2147/cmr.s7280 · Cited by 77
Dong, Y., Yi, Y., Yao, H., Yang, Z., Hu, H., Liu, J., Gao, C., Zhang, M., Zhou, L., Asan, et al. (2016) · BMC Medical Genetics · doi:10.1186/s12881-016-0286-2 · Cited by 79
“An Asian genome (YH) was used to assess the detection power of our assay [10].”
MethodSelf-citationA double hit implicates DIAPH3 as an autism risk gene
Vorstman, J. A. S., van Daalen, E., Jalali, G. R., Schmidt, E. R. E., Pasterkamp, R. J., de Jonge, M., Hennekam, E. A. M., Janson, E., Staal, W. G., van der Zwaag, B., et al. (2011) · Molecular Psychiatry · doi:10.1038/mp.2010.26 · Cited by 74
Hayakawa, T., Suzuki–Hashido, N., Matsui, A., & Go, Y. (2014) · Molecular Biology and Evolution · doi:10.1093/molbev/msu144 · Cited by 77
“…Analysis Consortium 2005; Levy et al. 2007; Rhesus Macaque Genome Sequencing and Analysis Consortium 2007; Bentley et al. 2008; Twigger et al. 2008; Wang et al. 2008; Li et al. 2010; Gnerre et al. 2011; Kim et al. 2011; Lindblad-Toh et al. 2011; Locke et al. 2011; Xu et al. 2011; Yan et al. 2011;…”
BackgroundIterative Dictionary Construction for Compression of Large DNA Data Sets
Kuruppu, S., Beresford‐Smith, B., Conway, T., & Zobel, J. (2011) · IEEE Transactions on Computational Biology and Bioinformatics · doi:10.1109/tcbb.2011.82 · Cited by 75
Dong, Z., Wang, H., Chen, H., Jiang, H., Yuan, J., Yang, Z., Wang, W., Xu, F., Guo, X., Cao, Y., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.170 · Cited by 75
Self-citationZhang, C., Zhang, C., Chen, S., Yin, X., Pan, X., Lin, G., Tan, Y., Tan, K., Xu, Z., Hu, P., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0054236 · Cited by 72
“In order to observe and correct GC biases in WGA, we isolated, amplified, and sequenced two single cells from the PB of YH, a healthy Chinese individual with normal karyotype [24], generating an average of 13.”
MethodSelf-citationKuhl, H., Beck, A., Wozniak, G., Canário, A. V. M., Volckaert, F. A. M., & Reinhardt, R. (2010) · BMC Genomics · doi:10.1186/1471-2164-11-68 · Cited by 72
Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome
McLarren, K. W., Severson, T., du Souich, C., Stockton, D. W., Kratz, L. E., Cunningham, D., Hendson, G., Morin, R. D., Wu, D., Paul, J. E., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.11.004 · Cited by 74
Self-citationDetecting common copy number variants in high-throughput sequencing data by using JointSLM algorithm
Magi, A., Benelli, M., Yoon, S. C., Roviello, F., & Torricelli, F. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr068 · Cited by 72
“The SVs of two of the individuals considered in this study (YH and NA18507) were previously analysed by means of PEM-based approach (23,24).”
BackgroundMethodHarakaľová, M., Mokrý, M., Hrdličková, B., Renkens, I., Duran, K. J., van Roekel, H. S., Lansu, N. R., van Roosmalen, M. J., de Bruijn, E., Nijman, I. J., et al. (2011) · Nature Protocols · doi:10.1038/nprot.2011.396 · Cited by 70
He, W., Zhao, S., Liu, X., Dong, S., Lv, J., Liu, D. M., Wang, J., & Meng, Z. (2013) · Genetics and Molecular Research · doi:10.4238/2013.december.4.15 · Cited by 72
Self-citationSecond Generation Sequencing of the Mesothelioma Tumor Genome
Bueno, R., Rienzo, A. D., Dong, L., Gordon, G. J., Hercus, C., Richards, W. G., Jensen, R. V., Anwar, A., Maulik, G., Chirieac, L. R., et al. (2010) · PLoS ONE · doi:10.1371/journal.pone.0010612 · Cited by 74
“Similar to the findings above, the number of candidate rearrangements was reduced to 1,524 at a depth of 2 or more reads consistent with the hypothesis that pyrosequencing may also produce artifactual rearrangements [18,19,31].”
ResultGenome variation discovery with high-throughput sequencing data
Dalca, A. V., & Brudno, M. (2010) · Briefings in Bioinformatics · doi:10.1093/bib/bbp058 · Cited by 71
“example, they are used to sequence novel genomes (de novo sequencing) [4–7], resequence individuals when a reference genome exists (variation discovery) [8, 9], sequence messenger and noncoding RNA to discover novel transcripts and quantify their expression levels in various tissues (RNA-Seq) [10, 11], and to understa…”
MethodFriedman, J. M., Adam, S., Arbour, L. T., Armstrong, L., Baross, Á., Birch, P. H., Boerkoel, C. F., Chan, S. Y., Chai, D., Delaney, A. D., et al. (2009) · BMC Genomics · doi:10.1186/1471-2164-10-526 · Cited by 71
Self-citationPersonalized medicine: hope or hype?
Salari, K., Watkins, H. C., & Ashley, E. A. (2012) · European Heart Journal · doi:10.1093/eurheartj/ehs112 · Cited by 76
Shida, Y., Furukawa, T., & Ogasawara, W. (2016) · Bioscience Biotechnology and Biochemistry · doi:10.1080/09168451.2016.1171701 · Cited by 73
Whole Genome Scanning: Resolving Clinical Diagnosis and Management Amidst Complex Data
Ali‐Khan, S. E., Daar, A. S., Shuman, C. T., Ray, P. N., & Scherer, S. W. (2009) · Pediatric Research · doi:10.1203/pdr.0b013e3181b0cbd8 · Cited by 69
Wiener, C. M., Thomas, P. A., Goodspeed, E., Valle, D. L., & Nichols, D. G. (2010) · Academic Medicine · doi:10.1097/acm.0b013e3181ccbebf · Cited by 71
Deciphering neo-sex and B chromosome evolution by the draft genome of Drosophila albomicans
Zhou, Q., Zhu, H., Huang, Q., Zhao, L., Zhang, G., Roy, S. W., Viçoso, B., Xuan, Z.-L., Ruan, J., Zhang, Y., et al. (2012) · BMC Genomics · doi:10.1186/1471-2164-13-109 · Cited by 70
“html, which showed a 99% consistency for SNP identification compared with Illumina HapMap 1 M BeadChip Duo data [49].”
ResultSelf-citationJiang, P., Chan, K. C. A., Liao, G. J. W., Zheng, Y. W. L., Leung, T. Y., Chiu, R. W. K., Lo, Y. M. D., & Sun, H. (2012) · Bioinformatics · doi:10.1093/bioinformatics/bts549 · Cited by 70
Third-generation sequencing techniques and applications to drug discovery
Ozsolak, F. (2012) · Expert Opinion on Drug Discovery · doi:10.1517/17460441.2012.660145 · Cited by 67
“The remaining genomes were sequenced with the Illumina/Solexa technology [9,81-83].”
MethodDe novo assembly of a haplotype-resolved human genome
Cao, H., Wu, H., Luo, R., Huang, S., Sun, Y., Tong, X., Xie, Y., Liu, B., Yang, H., Zheng, H., et al. (2015) · Nature Biotechnology · doi:10.1038/nbt.3200 · Cited by 65
Self-citationVariable NK Cell Receptors Exemplified by Human KIR3DL1/S1
Parham, P., Norman, P. J., Abi‐Rached, L., & Guethlein, L. A. (2011) · The Journal of Immunology · doi:10.4049/jimmunol.0902332 · Cited by 66
Comparison of insertion/deletion calling algorithms on human next-generation sequencing data
Ghoneim, D. H., Myers, J. R., Tuttle, E. T., & Paciorkowski, A. R. (2014) · BMC Research Notes · doi:10.1186/1756-0500-7-864 · Cited by 66
“4 million short indels are found per individual [3,4], and of these, 192–280 are frameshift (1000 Genomes Project Consortium et al.”
BackgroundCopy number variation in the cattle genome
Liu, G. E., & Bickhart, D. M. (2012) · Functional & Integrative Genomics · doi:10.1007/s10142-012-0289-9 · Cited by 66
“Initial CNV surveys included dog (Nicholas et al. 2009; Chen et al. 2009b; Nicholas et al. 2011), cattle (Liu et al. 2008), chicken (Wang et al. 2010; Volker et al. 2010), pig (Fadista et al. 2008; Ramayo-Caldas et al. 2010), sheep, and goat (Fontanesi et al. 2010; Fontanesi et al. 2011 ).”
BackgroundYoo, S., Kim, C.-U., Kim, H. L., Kim, S., Shin, J.-Y., Kim, N., Yang, J. S. W., Lo, K. W., Cho, B., Matsuda, F., et al. (2019) · Genome Medicine · doi:10.1186/s13073-019-0677-z · Cited by 64
“This cohort consists of YH cell line and samples from the HapMap and 1KGP3 with high sequencing depth (on average, 70×) [1, 42, 43].”
MethodWidespread signatures of recent selection linked to nucleosome positioning in the human lineagePreprint
Prendergast, J. G. D., & Semple, C. A. M. (2011) · Genome Research · doi:10.1101/gr.122275.111 · Cited by 64
“…to the inclusion of extra exome data in the calling of the Khosian variants and potential resulting biases in SNP calling) (Levy et al. 2007; Bentley et al. 2008; Wang et al. 2008; Wheeler et al. 2008; Ahn et al. 2009; Kim et al. 2009; Drmanac et al. 2010; Schuster et al. 2010; Tong et al. 2010).”
BackgroundWhole Genome Sequences of a Male and Female Supercentenarian, Ages Greater than 114 Years
Sebastiani, P., Riva, A., Montano, M. A., Pham, P., Torkamani, A., Scherba, E., Benson, G., Milton, J. N., Baldwin, C. T., Andersen, S. L., et al. (2012) · Frontiers in Genetics · doi:10.3389/fgene.2011.00090 · Cited by 64
Wong, G. K., Soltis, P. S., Leebens‐Mack, J., Wickett, N. J., Barker, M. S., de Peer, Y. V., Graham, S. W., & Melkonian, M. (2019) · Annual Review of Plant Biology · doi:10.1146/annurev-arplant-042916-041040 · Cited by 65
Self-citationWold, J., Koepfli, K., Galla, S. J., Eccles, D., Hogg, C. J., Lec, M. F. L., Guhlin, J. G., Santure, A. W., & Steeves, T. E. (2021) · Molecular Ecology · doi:10.1111/mec.16141 · Cited by 71
Cao, H., Wu, J., Wang, Y., Jiang, H., Zhang, T., Liu, X., Xu, Y., Liang, D., Gao, P., Sun, Y., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0069388 · Cited by 64
“One was YH, which had previously been whole genome deep sequenced in 2008 [20], and genotyped using Illumina 2.”
MethodSelf-citationШао, Д., Lin, Y., Liu, J., Wan, L., Zu, L., Cheng, S., Fei, L., Deng, R., Wang, J. Z., Chen, X., et al. (2016) · Scientific Reports · doi:10.1038/srep22338 · Cited by 63
Self-citationInvFEST, a database integrating information of polymorphic inversions in the human genome
Martinez‐Fundichely, A., Casillas, S., Egea, R., Ràmia, M., Barbadilla, A., Pantano, L., Puig, M., & Cáceres, M. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt1122 · Cited by 67
Metadata
- Authors
- Wang, J., Wang, W., Li, R., Li, Y., Tian, G., Goodman, L., Fan, W., Zhang, J., Li, J., Zhang, J., Guo, Y., Feng, B., Li, H., Lu, Y., Fang, X., Liang, H., Du, Z., Li, D., Zhao, Y., Hu, Y., Yang, Z., Zheng, H., Hellmann, I., Inouye, M., Pool, J., Yi, X., Zhao, J., Duan, J., Zhou, Y., Qin, J., Ma, L., Li, G., Yang, Z., Zhang, G., Yang, B., Yu, C., Liang, F., Li, W., Li, S., Li, D., Ni, P., Ruan, J., Li, Q., Zhu, H., Liu, D., Lu, Z., Li, N., Guo, G., Zhang, J., Ye, J., Fang, L., Hao, Q., Chen, Q., Liang, Y., Su, Y., san, A., Ping, C., Yang, S., Chen, F., Li, L., Zhou, K., Zheng, H., Ren, Y., Yang, L., Gao, Y., Yang, G., Li, Z., Feng, X., Kristiansen, K., Wong, G. K.-S., Nielsen, R., Durbin, R., Bolund, L., Zhang, X., Li, S., Yang, H., & Wang, J.
- Affiliations
- BGI Group (China) (CN)
- University of California, Berkeley (US)
- Wellcome Sanger Institute (GB)
- University of Southern Denmark (DK)
- Corresponding author
- Wang, Jun
- Wang, Jian
- ORCID
- Wang, Jun
- Wang, Wei
- Li, Ruiqiang
- Li, Yingrui
- Tian, Geng
- Goodman, Laurie
- Fan, Wei
- Zhang, Junqing
- Li, Jun
- Guo, Yiran
- 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
- Qin, Junjie
- Ma, Lijia
- Li, Guoqing
- Zhang, Guojie
- Yang, Bin
- Yu, Chang
- Li, Wenjie
- Li, Shaochuan
- Li, Dawei
- 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
- Yang, Shuang
- Chen, Fang
- Li, Li
- 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
- Venue
- Nature
- Published
- 2008-11
- Volume
- 456
- Issue
- 7218
- Pages
- 60-65
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC2716080
- OpenAlex
- W2001725958
- Cited by
- 924
- References
- 23
- Citations by year
- 2026: 1 · 2025: 5 · 2024: 8 · 2023: 11 · 2022: 8 · 2021: 13 · 2020: 39 · 2019: 20 · 2018: 18 · 2017: 26 · 2016: 38 · 2015: 38 · 2014: 63 · 2013: 92 · 2012: 105
- FWCI
- 60.27
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Nature (publishedVersion, cc-by-nc-sa)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- University of Southern Denmark Research Portal (University of Southern Denmark) (submittedVersion)
- Funders
- Wellcome Trust (077192)
- National Natural Science Foundation of China (30890032, 90608010, 30221004, 90612019, 90403130, 30725008, 30392130)
- Chinese Academy of Sciences (GJHZ0701-6, KSCX2-YWN-023)
- Lundbeckfonden
- Shenzhen University
- Beijing Municipal Science and Technology Commission (D07030200740000)
- H. Lundbeck A/S
- National High-tech Research and Development Program
- National Key Research and Development Program of China (2007CB815705, 2007CB815703, 2007CB815701)
- National Human Genome Research Institute (R01HG003229)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- single nucleotide polymorphisms, structural variants, personal genomics, genetic ancestry, Han Chinese, Yoruba, HapMap, genome assembly, genome-wide association study
- MeSH terms
- Alleles, Animals, Pan troglodytes, Diploidy, Haplotypes, Humans, Phenotype, Sensitivity and Specificity, Genome, Human, Consensus Sequence, Sequence Alignment, Genetic Predisposition to Disease, Internet, Polymorphism, Single Nucleotide, Genomics, Databases, Genetic, Asian People
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