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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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Citations
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Khatamifard, S. K., Chowdhury, Z. I., Pande, N., Razaviyayn, M., Kim, C. H., & Karpuzcu, U. R. (2021) · IEEE Transactions on Computational Biology and Bioinformatics · doi:10.1109/tcbb.2021.3118018 · Cited by 25
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“Nonsynonymous single nucleotide variants (nsS-NVs) comprise a significant portion of the observed variation with an average exome containing 10,500–13,500 nsS-NVs (1–4).”
BackgroundSchrijver, J. M. D., Leeneer, K. D., Lefever, S., Sabbe, N., Pattyn, F., Nieuwerburgh, F. V., Coucke, P. J., Deforce, D. L. D., Vandesompele, J., Bekaert, S., et al. (2010) · BMC Bioinformatics · doi:10.1186/1471-2105-11-269 · Cited by 16
SNP discovery performance of two second-generation sequencing platforms in the NOD2 gene region
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“These technologies have recently been used in several sequencing projects [Bentley et al., 2008; Choi et al., 2009; Ng et al., 2009; Wang et al., 2008; Wheeler et al., 2008].”
MethodTIARA: a database for accurate analysis of multiple personal genomes based on cross-technology
Hong, D., Park, S. S., Ju, Y. S., Kim, S., Shin, J. Y., Kim, S., Yu, S.-B., Lee, W., Lee, S., Park, H., et al. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq1101 · Cited by 15
Benchmarking Undedicated Cloud Computing Providers for Analysis of Genomic Datasets
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“To investigate the impact of data size on undedicated cluster performance, one small (Escherichia coli CC102 strain (3 GB SRA file; Accession: SRX003267) and one large (a Han Chinese male genome (142 GB Fastq files; Accession: ERA000005) publicly available genomic dataset was selected for analysis [8,10].”
BackgroundA Simple CELI Endonuclease-Based Protocol for Genotyping both SNPs and InDels
Jiang, G., Yao, X., & Liu, C. (2013) · Plant Molecular Biology Reporter · doi:10.1007/s11105-013-0606-z · Cited by 16
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Ma, D., Yang, J., Wang, Y., Huang, X., Du, G., & Zhou, L. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38350 · Cited by 17
“Adapter ligation and DNA cluster preparation were performed and the samples were subjected to Solexa sequencing (Mardis, 2008; Wang et al., 2008; Wheeler et al., 2008).”
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Discovery of genomic variation across a generation
Trost, B., Loureiro, L. O., & Scherer, S. W. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab209 · Cited by 20
Next Generation Sequencing for Disorders of Sex Development
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Self-citationSequencing Genomes: From Individuals to Populations
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“Moreover, there are difficulties with detection of insertions, repetitive parts of the genome longer than insert size [10] and detection of SVs in complex, duplicated parts of the genome [51].”
BackgroundMethodInfluentialAmbiguous fragment assignment for high-throughput sequencing experiments
Roberts, A. (2013) · eScholarship (California Digital Library) · Cited by 16
Suslov, V. V., Пономаренко, П. М., Ponomarenko, M. P., Drachkova, I. A., Arshinova, T. V., Savinkova, L. K., & Kolchanov, N. A. (2010) · Russian Journal of Genetics · doi:10.1134/s1022795410040022 · Cited by 15
“A similar pattern was revealed upon comparison of the reference genome with the genome of a representative of the Mongoloid race [2].”
ResultDecoding Genomes at High Speed: Implications for Science and Medicine
Balasubramanian, S. (2011) · Angewandte Chemie International Edition · doi:10.1002/anie.201106707 · Cited by 15
Detection and Interpretation of Genomic Structural Variation in Mammals
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Inherited Retinal Disorders: Using Evidence as a Driver for Implementation
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Impact of the next generation DNA sequencers.
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Platts, A. E., Land, S. J., Chen, L., Page, G. P., Rasouli, P., Wang, L., Lu, X., & Ruden, D. M. (2009) · Fly · doi:10.4161/fly.3.3.9652 · Cited by 15
“elegans as a quick method to identify a mutation that produces a hard-to-map phenotype.(26) We have characterize the w(1118) deletion and thereby show that whole-genome sequencing is also a viable method for characterizing mutations in Drosophila.”
MethodFlicek, P. (2009) · Genome biology · doi:10.1186/gb-2009-10-3-212 · Cited by 15
“Individual genomes [12-14]”
Sequencing and annotated analysis of full genome of Holstein breed bull
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“The numbers of small and large indels and inversions are far larger than those in human genome (Levy et al. 2007; Lilleoja et al. 2011; Schuster et al. 2010; Wang et al. 2008; Venter et al. 2001).”
VCGDB: a dynamic genome database of the Chinese population
Ling, Y., Jin, Z., Su, M., Zhong, J., Zhao, Y., Yu, J. M., Wu, J., & Xiao, J. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-265 · Cited by 15
“sequenced the genome of a Han Chinese individual using combined strategies for alignment and assembly [26].”
MethodSelf-citationSequencing and annotated analysis of the Holstein cow genome
Kõks, S., Lilleoja, R., Reimann, E., Salumets, A., Reemann, P., & Jaakma, Ü. (2013) · Mammalian Genome · doi:10.1007/s00335-013-9464-0 · Cited by 15
“Also, the number of small and large indels and inversions is larger than in the human genome (Levy et al. 2007; Lilleoja et al. 2011; Schuster et al. 2010; Wang et al. 2008; Venter et al. 2001).”
BackgroundPersonalized Medicine: The Future of Health Care
Meiliana, A., Dewi, N. M., & Wijaya, A. (2016) · The Indonesian Biomedical Journal · doi:10.18585/inabj.v8i3.271 · Cited by 15
“Advanced NGS technology and numerous bio-informatics techniques (56-58) have been developed and applied to the production and analysis of large-scale human sequence data in many individuals (59-62) and international projects (63-67).”
MethodSystems biology of embryogenesis
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Spisák, S., Tisza, V., Nuzzo, P. V., Seo, J.-H., Pataki, B., Ribli, D., Sztupinszki, Z. M., Bell, C. A., Rohanizadegan, M., Stillman, D. R., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-40616-z · Cited by 14
“Greater than 99% of these variants localize to the non-coding genome and the functional contribution of these variants to human disease remains unknown 8 – 12 .”
RNASequel: accurate and repeat tolerant realignment of RNA-seq reads
Wilson, G. W., & Stein, L. D. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv594 · Cited by 15
“For the GM12878 and YH datasets SNPs that were called from genome sequencing data were discarded (see Supplementary Methods) (29,30).”
MethodThe next phase in human genetics
Bansal, V., Tewhey, R., Topol, E. J., & Schork, N. J. (2011) · Nature Biotechnology · doi:10.1038/nbt.1757 · Cited by 14
Genome re-sequencing and bioinformatics analysis of a nutraceutical rice
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Self-citationTargeted deep resequencing of the human cancer genome using next-generation technologies
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“For example, sequencing a normal diploid human genome using Illumina technology required an average sequencing fold coverage of thirty (Bentley et al., 2008) or thirty-six (Wang et al., 2008).”
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“These simulations show that increasing depth improves the assemblies (as measured by N50), but only up to about 15 to 20 times coverage [39].”
BackgroundDetecting Past Positive Selection through Ongoing Negative Selection
Bazykin, G. A., & Kondrashov, A. S. (2011) · Genome Biology and Evolution · doi:10.1093/gbe/evr086 · Cited by 15
“…genotypes were used: KB1 (454 method) (Schuster et al. 2010), ABT (SOLiD method) (Schuster et al. 2010), NA18507 (Bentley et al. 2008), NA19240 (Drmanac et al. 2010), Craig Venter (Levy et al. 2007), NA12891, NA12892, Chinese individual (Wang et al. 2008), and Korean individual (Ahn et al. 2009).”
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“[8, 9] and the 1000 Genomes Project has made ~180 whole-genome sequences available (http:// www.”
BackgroundSNP2Vec: Scalable Self-Supervised Pre-Training for Genome-Wide Association Study
Cahyawijaya, S., Yu, T., Liu, Z., Zhou, X., Mak, T. W. T., Ip, Y.-Y. N., & Fung, P. (2022) · Workshop on Biomedical Language Processing (BioNLP) · doi:10.18653/v1/2022.bionlp-1.14 · Cited by 17
Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet
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“1.3) showed that our phased genomes resolved 95.7% of the complete genes from the mammalia_odb10 library, which was higher than three previous Chinese assemblies [52–54] and comparable to the recent reports of HJ [50] and HPRC [36, 56] (Table 1 and Additional file 1: Table S7).”
ResultInfluentialSelf-citationComplete genome sequencing and variant analysis of a Pakistani individual
Azim, M. K., Yang, C., Yan, Z., Choudhary, M. I., Khan, A., Sun, X. S., Li, R., Asif, H., Sharif, S., & Zhang, Y. (2013) · Journal of Human Genetics · doi:10.1038/jhg.2013.72 · Cited by 12
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“Applying the promoter-targeted LHC-BS, we first analyzed a lymphoblastoid cell line (YH) (26-28).”
MethodSelf-citationYu, Q., Zhang, W., Zhang, X., Zeng, Y., Wang, Y., Wang, Y., Xu, L., Huang, X., Li, N., Zhou, X., et al. (2017) · GigaScience · doi:10.1093/gigascience/gix066 · Cited by 12
“In addition, we also used a Chinese sample [17] for which the data were previously released in the European Nucleotide Archive (ENA) repository (Additional file 1: Table S1).”
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“That journal published two articles asserting triumphantly how, for the first time, the whole human genome of (a) “an Asian individual,” and then (b) of a Yoruban or “an African individual,” were now “revealed” (Wang et al. 2008).”
BackgroundSortilina e risco de doença cardiovascular
Coutinho, M. F., Bourbon, M., Prata, M. J., & Alves, S. (2013) · Revista Portuguesa de Cardiologia · doi:10.1016/j.repc.2013.02.006 · Cited by 12
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“We assumed to some extent that it was due to the different sequencing platform and sequencing strategy, YH WGS was performed on the Illumina Genome Analyzer that generated average 35 bp length reads obviously shorter than RRL sequencing performed on Illumina Hiseq 2000 with average read length of 90 bp.”
MethodInfluentialSelf-citationChow, A., Amemiya, Y., Sugar, L., Nam, R. K., & Seth, A. K. (2012) · PubMed · Cited by 11
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“0) (Wang et al., 2011), and ExomeCNV (v1.”
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Self-citationA Clinical Approach to a Family History of Sudden Death
Tan, B. Y., & Judge, D. P. (2012) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.110.959437 · Cited by 11
DNA sequencing methods in human genetics and disease research
Lehrach, H. (2013) · F1000Prime Reports · doi:10.12703/p5-34 · Cited by 12
“Through the development of automated sequencing machines [5], this first phase of technology development culminated in the first sequence(s) of the human genome as the result of the human genome project [6,7] followed up by a number of single genomes, all but the first [8] sequenced on different next generation sequen…”
MethodHigh-Resolution Mapping of Evolutionary Trajectories in a Phage
Dickins, B., & Nekrutenko, A. (2009) · Genome Biology and Evolution · doi:10.1093/gbe/evp029 · Cited by 11
“…replacement of coverage data stitch.py = unfiltered polymorphism table = FRED-filtered polymorphism table”
BackgroundDuplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome
Breckpot, J., Budts, W., de Zegher, F., Vermeesch, J. R., & Devriendt, K. (2010) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2010.08.004 · Cited by 11
“The deleted region partially overlaps with known CNPs [19], was inherited from an unaffected parent and did not comprise the minimal critical region of the 22q13.”
BackgroundMoon, S., Kim, Y. J., Hong, C. B., Kim, D. J., Lee, J., & Kim, B.-J. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.103 · Cited by 11
Zhu, W., Cooper, D. N., Zhao, Q., Wang, Y., Liu, R., Li, Q., Férec, C., Wang, Y., & Chen, J. (2014) · Human Mutation · doi:10.1002/humu.22749 · Cited by 10
“, the Han Chinese individual known as YH01 in [Wang et al., 2008]), Schrider et al.”
BackgroundSelf-citationNucleosome positioning changes during human embryonic stem cell differentiation
Zhang, W., Li, Y., Kulik, M. J., Tiedemann, R. L., Robertson, K. D., Dalton, S., & Zhao, S. (2016) · Epigenetics · doi:10.1080/15592294.2016.1176649 · Cited by 10
Self-citationde Carvalho-Siqueira, G. Q., Ananina, G., de Souza, B. B., Borges, M. G., Ito, M. T., da Silva-Costa, S. M., Domingos, I. F., Falcão, D. A., Lopes‐Cendes, Í., Bezerra, M., et al. (2019) · Experimental Biology and Medicine · doi:10.1177/1535370219849592 · Cited by 10
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“31 Thus, the way has been opened for more rapid and detailed analyses of CNAPS in terms of diagnosis, 32 eg, through the more ready identification of single nucleotide polymorphisms (SNPs).”
High-Throughput Sequencing of a South American Amerindian
Ribeiro-dos-Santos, A. M., de Souza, J. E. S., de Almeida, R. V. B., Alencar, D. O., Barbosa, M. S., Gusmão, L., Silva, W. A., SOUZA, S. J. D., Silva, A., Ribeiro‐dos‐Santos, Â., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0083340 · Cited by 10
“The specialized literature describes the fully sequenced genomes of samples of other populations, including samples of Japanese [11], Chinese [15], Korean [6,7], Indian [13,14], Aboriginal Australian [12], and African [9] populations; these samples are available for comparison analyses.”
BackgroundResultInfluentialSelective Constraints Determine the Time Dependency of Molecular Rates for Human Nuclear Genomes
Subramanian, S., & Lambert, D. M. (2012) · Genome Biology and Evolution · doi:10.1093/gbe/evs092 · Cited by 10
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“Starting from an initial contig N50 size of ,1 kb and scaffold N50 size of ,17 kb with 52-fold short-insert PE reads (200,500 bp) from the YH project and following studies [8,17], we added the long-range PE information (from 2 kb to 35 kb) step by step using the SOAPdenovo assembler [8].”
MethodInfluentialSelf-citationWhole genome analysis of a Vietnamese trio
Hai, D. T., Thanh, N. D., Trang, P. T. M., Le, S. Q., Hằng, P. T. T., Dang, C. C., Phuc, H. K., Đức, N. H., Đông, Đ. Đ., Minh, B. Q., et al. (2015) · Journal of Biosciences · doi:10.1007/s12038-015-9501-0 · Cited by 9
“Besides, a number of individual human genomes have been sequenced at a high coverage level, such as the Han Chinese genome (Wang et al. 2008), Indian genome (Hardy et al.”
BackgroundTaniguchi, Y., Matsuda, H., Yamada, T., Sugiyama, T., Homma, K., Kaneko, Y., Yamagishi, S., & Iwaisaki, H. (2013) · PLoS ONE · doi:10.1371/journal.pone.0072781 · Cited by 9
“95 times higher than that estimated for humans (1 SNP per 1450 bp) [19].”
BackgroundHigh Proportions of Deleterious Polymorphisms in Constrained Human Genes
Subramanian, S. (2010) · Molecular Biology and Evolution · doi:10.1093/molbev/msq287 · Cited by 9
“Firstly, to examine the genome-wide pattern I assembled a dataset of 14,939 human-chimpanzee orthologous genes and obtained over one million SNPs from four completely sequenced genomes belonging to two Europeans, a Chinese and an African.”
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MethodSelf-citationSortilin and the risk of cardiovascular disease
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Li, J. (2013) · Human Genetics & Embryology · doi:10.4172/2161-0436.s2-001 · Cited by 8
“[51] applied RRBS to the human PBMC of the Asian individual from YH project, whose genome and epigenome has been systematically deciphered [28,32].”
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“However, even though next-generation sequencing (NGS) platform can produce billions of DNA sequence data with greater resolution and accuracy [32], costs restrict its practice for some applications, especially in those wild germplasms and locally adapted varieties.”
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Pharmacogenetics and Personal Genomes
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Parallel methods for short read assembly
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MethodUse of Genetics in the Clinical Evaluation and Management of Heart Failure
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A Review on The Processing and Analysis of Next-generation RNA-seq Data*
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Family-Based Benchmarking of Copy Number Variation Detection Software
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Next Generation Sequencing Technologies and Their Applications
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A Non-volatile Near-Memory Read Mapping AcceleratorPreprint
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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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