The DOI matches its Crossref record; 23 of the 23 references it cites were found in a registry or an index.
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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]
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216
Self-citationThe sequence of the human genome
Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. (2001) · Science · doi:10.1126/science.1058040 · Cited by 13,909
Self-citationVelvet: Algorithms for de novo short read assembly using de Bruijn graphsPreprint
Zerbino, D. R., & Birney, E. (2008) · Genome Research · doi:10.1101/gr.074492.107 · Cited by 9,587
EVOLUTION IN MENDELIAN POPULATIONS
Wright, S. (1931) · Genetics · doi:10.1093/genetics/16.2.97 · Cited by 9,237
A New Statistical Method for Haplotype Reconstruction from Population Data
Stephens, M., Smith, N. J. C., & Donnelly, P. (2001) · The American Journal of Human Genetics · doi:10.1086/319501 · Cited by 7,512
dbSNP: the NCBI database of genetic variation
Sherry, S. T. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.1.308 · Cited by 7,502
SOAP: Short oligonucleotide alignment program
Li, R., Li, Y., Kristiansen, K., & Wang, J. (2008) · Bioinformatics · doi:10.1093/bioinformatics/btn025 · Cited by 3,597
Self-citationDetection of large-scale variation in the human genome
Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892
Prescribing Personalized Nutrition for Cardiovascular Health: Are We Ready?
Juma, S., Imrhan, V., Vijayagopal, P., & Prasad, C. (2014) · Lifestyle Genomics · doi:10.1159/000370213 · Cited by 1,908
The complete genome of an individual by massively parallel DNA sequencing
Wheeler, D. A., Srinivasan, M., Egholm, M., Shen, Y., Chen, L., McGuire, A., He, W., Chen, Y.-J., Makhijani, V., Roth, G. T., et al. (2008) · Nature · doi:10.1038/nature06884 · Cited by 1,838
Cited by
Sorted by citations
Items 601–700 of 927
Genom‐Entschlüsselung mit Hochgeschwindigkeitsverfahren: Bedeutung für Wissenschaft und Medizin
Balasubramanian, S. (2011) · Angewandte Chemie · doi:10.1002/ange.201106707 · Cited by 7
Genome-wide SNP discovery in associating with human diseases phenotypes
Kumanayake, P. C. (2013) · Sri Lanka Journal of Bio-Medical Informatics · doi:10.4038/sljbmi.v3i1.2451 · Cited by 7
Population genomics advances in frontier ethnic minorities in China
Chen, H., & Xu, S. (2024) · Science China Life Sciences · doi:10.1007/s11427-024-2659-2 · Cited by 8
“However, existing efforts assembling Chinese population genomes mainly focus on Han Chinese, including YH (Wang et al., 2008), HX1 (Shi et al., 2016), NH1 (Du et al., 2019), HJ (Yang et al., 2022a), Han1 (Chao et al., 2023), CN1 (Yang et al., 2023), and T2T-YAO (He et al., 2023), or Chinese ethnic…”
Database documentation of retrotransposon insertion polymorphisms
Liang, P. (2011) · Frontiers in Bioscience-Elite · doi:10.2741/479 · Cited by 7
“For example, there are ~2000 L1, ~7000 Alus, and ~1000 SVA insertions that are only found in the human genome, and together these insertions contributed more than 8 Mb of nucleotide sequences to the human genome, a major factor leading to the increase in genome size in humans in comparison with chimpanzees (25-32).”
BackgroundFrom Sequence Data to Returnable Results: Ethical Issues in Variant Calling and Interpretation
Holm, I. A., Yu, T. W., & Joffe, S. (2017) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2016.0413 · Cited by 7
“Milestones over the past 15 years include completion of the first single individual’s genome (Venter et al., 2001) in 2007 (Levy et al., 2007), James Watson’s genome (Wheeler et al., 2008) as well as the first Chinese (Wang et al., 2008) and Yoruban genomes (Bentley et al., 2008) in 2008, the Korean genome (Kim et al.…”
BackgroundInfluentialSparkGC: Spark based genome compression for large collections of genomes
Yao, H., Hu, G., Liu, S., Fang, H., & Ji, Y. (2022) · BMC Bioinformatics · doi:10.1186/s12859-022-04825-5 · Cited by 7
“In addition, we supplemented another 10 genomes HG13, HG16, HG17, HG18, HG19, HG38, K131 (the abbreviation of KOREF_20090131), K224 (the abbreviation of KOREF_20090224) [34], YH [35], and Huref [36].”
MethodGene-specific FACS sorting method for target selection in high-throughput amplicon sequencing
Sandberg, J., Neiman, M., Ahmadian, A., & Lundeberg, J. (2010) · BMC Genomics · doi:10.1186/1471-2164-11-140 · Cited by 7
“Next-generation sequencing approaches have proved to be highly valuable for the analysis of genomes [1-3], transcriptomes [4-6] and transcription factor binding sites [7].”
BackgroundMulti-platform segmentation for joint detection of copy number variants
Teo, S. M., Yudi Pawitan, Y., Kumar, V., Thalamuthu, A., Seielstad, M. T., Chia, K. S., & Salim, A. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btr162 · Cited by 7
Sun, X., Sui, W., Wang, X., Hou, X., Ou, M., Dai, Y., & Xiang, Y. (2016) · Molecular Medicine Reports · doi:10.3892/mmr.2016.5014 · Cited by 8
“The present study was approved by the Medical and Health Research Ethics Committee of the 181st Hospital of the People's Liberation Army (Guilin, China).”
Zumaraga, M. P., Julius, M. P., Recto, J. M., Abrahan, L. L., Azurin, E., Tanchoco, C. C., Jimeno, C., & Palmes-Saloma, C. P. (2016) · The Journal of Nutritional Biochemistry · doi:10.1016/j.jnutbio.2016.12.003 · Cited by 7
Online Resources for Genomic Structural Variation
Sneddon, T. P., & Church, D. M. (2011) · Methods in molecular biology · doi:10.1007/978-1-61779-507-7_13 · Cited by 7
“Both James Watson’s and Yan Huang’s genome sequences were aligned to NCBI36 (the previous version of GRCh37).”
BackgroundInfluentialEthical issues in neurogenetic disorders
Kang, P. B. (2013) · Handbook of clinical neurology · doi:10.1016/b978-0-444-53501-6.00022-6 · Cited by 7
Assembly of Large Genomes from Paired Short Reads
Jackson, B. G., Schnable, P. S., & Aluru, S. (2009) · Lecture notes in computer science · doi:10.1007/978-3-642-00727-9_5 · Cited by 7
Park, T.-H., Park, B., Kim, J.-A., Hong, J. K., Jin, M., Seol, Y., & Mun, J. (2011) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jcg.2010.12.002 · Cited by 7
Genomic research for important pathogenic bacteria in China
Yang, R., Guo, X., Yang, J., Jiang, Y., Pang, B., Chen, C., Yao, Y., Qin, J., & Li, Q. (2009) · Science in China Series C Life Sciences · doi:10.1007/s11427-009-0009-4 · Cited by 7
Self-citationEvolutionary Genomics Leads the Way
Penny, D., & Collins, L. J. (2010) · Wiley eBooks · doi:10.1002/9780470570418.ch1 · Cited by 7
Copy Number Variants and the Genetic Enigma of Congenital Heart Disease
Marian, A. J. (2014) · Circulation Research · doi:10.1161/circresaha.114.305243 · Cited by 8
Jin, X., He, M., Ferguson, B. M., Meng, Y., Ouyang, L., Ren, J., Mailund, T., Sun, F., Sun, L., Shen, J., et al. (2012) · PLoS ONE · doi:10.1371/annotation/450f85d8-03c6-4bd4-aa8e-b5b5894b4593 · Cited by 7
Self-citationCharacterizing and Interpreting Genetic Variation from Personal Genome Sequencing
Johansson, A., & Feuk, L. (2011) · Methods in molecular biology · doi:10.1007/978-1-61779-507-7_17 · Cited by 7
Genome-wide patterns of genetic variation among silkworms
Zhang, X., Nie, M., Zhao, Q., Wu, Y., Wang, G., & Xia, Q. (2015) · Molecular Genetics and Genomics · doi:10.1007/s00438-015-1017-7 · Cited by 6
“SNPs were called with SOAPsnp (Li et al. 2009) using a conservative quality filter pipeline described before (Wang et al. 2008).”
MethodSelf-citationGeystelen, A. V., Wenseleers, T., Decorte, R., Caspers, M., & Larmuseau, M. (2014) · Electrophoresis · doi:10.1002/elps.201300459 · Cited by 6
Association of Pathway Mutations With Survival in Taiwanese Breast Cancers
Yang, P., Chao, Y., Lung, C.-F., Liu, C., Chang, Y., Li, K.-C., & Hsu, Y. (2022) · Frontiers in Oncology · doi:10.3389/fonc.2022.819555 · Cited by 6
“In past few years, many genomes have been sequenced, and this has rapidly generated large volumes of genomic data (8, 9).”
BackgroundVariant Calling Using NGS Data in European Aspen (Populus tremula)
Wang, J., Scofield, D. G., Street, N. R., & Ingvarsson, P. K. (2015) · Springer eBooks · doi:10.1007/978-3-319-17157-9_4 · Cited by 6
Self-citationSasaki, E., Sugino, R. P., & Innan, H. (2013) · Molecular Biology and Evolution · doi:10.1093/molbev/mst103 · Cited by 7
Babb, P. L., McIntosh, A. M., Fernández‐Duque, E., & Schurr, T. G. (2013) · International Journal of Primatology · doi:10.1007/s10764-013-9721-9 · Cited by 7
Ahn, Y. J., Markkandan, K., Baek, I.-P., Mun, S., Lee, W., Kim, H., & Han, K. (2017) · Genes & Genomics · doi:10.1007/s13258-017-0608-6 · Cited by 6
Hong, H., Zhang, W., Su, Z., Shen, J., Ge, W., Ning, B., Fang, H., Perkins, R., Shi, L. M., & Tong, W. (2013) · Springer eBooks · doi:10.1007/978-81-322-1184-6_3 · Cited by 7
dnAQET: a framework to compute a consolidated metric for benchmarking quality of de novo assemblies
Yavaş, G., Hong, H., & Xiao, W. (2019) · BMC Genomics · doi:10.1186/s12864-019-6070-x · Cited by 6
Zhang, Z., Qiu, M., Du, H., Li, Q., Yu, C., Gan, W., Peng, H., Xia, B., Xiong, X., Song, X., et al. (2021) · Gene Expression Patterns · doi:10.1016/j.gep.2021.119181 · Cited by 6
Self-citationLi, F.-P., Yoon, M.-Y., Li, G., Ra, W.-H., Park, J.-W., Kwon, S., Kwon, S., Ahn, I., & Park, Y. (2014) · Gene · doi:10.1016/j.gene.2014.05.059 · Cited by 6
“…lastidial AGPase; i, ADPglc transporter. ing caryopses reveals the potential formation mechanism of the rice 9 such as serial analysis of gene expression (SAGE) and microarrays (Mortazavi et al., 2008; Nagalakshmi et al., 2008; Sultan et al., 2008; Wang et al., 2008;Wilhelm et al., 2008).”
BackgroundSelf-citationShirota, M., & Kinoshita, K. (2016) · Database · doi:10.1093/database/baw124 · Cited by 6
“Although many other groups have published alternative human genome sequences of separate individuals (4, 5), including those from different ethnicities (6, 7) and from the haploid genome of a hydatidiform mole (8), the reference genome has distinguished accuracy and coverage for difficult regions, including repeats an…”
BackgroundMai, Z., Liu, W., Ding, W. J., & Zhang, G. (2019) · Human Genetics · doi:10.1007/s00439-019-02032-6 · Cited by 6
Self-citationMental Retardation and Intellectual Disability
Nelson, D. L. (2009) · Springer eBooks · doi:10.1007/978-3-540-37654-5_27 · Cited by 6
Genome-wide association studies in myocardial infarction and coronary artery disease.
Mannucci, P. M., Lotta, L. A., & Peyvandi, F. (2010) · Europe PMC (PubMed Central) · Cited by 6
Exploring the Landscape of the Genome
Barnes, M. R. (2010) · Methods in molecular biology · doi:10.1007/978-1-60327-367-1_2 · Cited by 6
“With the rise of next-generation sequencing technologies (23), there are now several projects completed or underway that are resequencing individual genomes (24).”
BackgroundCancer Genomes on a Shoestring Budget
Shendure, J., & Stewart, C. J. R. (2009) · New England Journal of Medicine · doi:10.1056/nejme0903433 · Cited by 6
Indices and Applications in High-Throughput Sequencing
Weese, D. (2013) · Universitätsbibliothek der FU Berlin Hochschulschriftenstelle u. Dokumentenserver · doi:10.17169/refubium-11863 · Cited by 6
Review of the technology used for structural characterization of the GMO genome using NGS data
Moon, K. H., Basnet, P., Um, T., & Choi, I. (2024) · Genomics & Informatics · doi:10.1186/s44342-024-00016-1 · Cited by 5
“While there is debate about the appropriate range for detecting the presence of inserts, several studies have shown that higher sequencing depths are more advantageous for achieving accurate molecular characterization of GM events [1, 46].”
BackgroundYu, F., Chen, M., Kuo, L., Talbott, H. A., & Davis, J. S. (2015) · BMC Bioinformatics · doi:10.1186/s12859-015-0664-3 · Cited by 5
“[34] reported the DNA sequence of a Nigerian individual and an Asian individual, respectively.”
BackgroundPallarès-Ruiz, N., Philibert, L., Dumont, B., Fabre, A., Cuisset, L., Cointin, E., Rittore, C., Soler, S., & Touitou, I. (2010) · PLoS ONE · doi:10.1371/journal.pone.0014096 · Cited by 5
“245664071) in one Asian individual [16]; and 3) complex rearrangements upstream of the NLRP3 gene in 50 French individuals [17].”
BackgroundMarian, A. J. (2011) · Current Atherosclerosis Reports · doi:10.1007/s11883-011-0168-1 · Cited by 6
“Considering that each exome has approximately 10,000 non-synonymous variants and probably about 200-300 novel ns-synonymous variants, deep sequencing is likely to dominate genetic studies of complex phenotype in the coming years [14] [15] [16] [17] [18] .”
BackgroundA whole genome analyses of genetic variants in two Kelantan Malay individuals
Juhari, W. K. W., Tamrin, N. A. M., Daud, M. H. R. M., Isa, H. W., Nasir, N. M., Maran, S., Rajab, N. S. A., Noordin, K. B. A. A., Hassan, N. N. N., Tearle, R. G., et al. (2014) · The HUGO Journal · doi:10.1186/s11568-014-0004-0 · Cited by 5
“Many studies of other whole genome samples from the Han Chinese (Wang et al., 2008), the South Asian Indian Female (Gupta et al., 2012), the SJK-Korean (Ahn et al., 2009) and the Southeast Asia Malays in Singapore (Wong et al., 2013) have reported the discovery of a consistent number of SNPs.”
BackgroundAshour, M., Al-Souti, A. S., Mamoon, A., Ali, F. S., Elshobary, M. E., Mabrouk, M. M., Mansour, A. I. A., Mansour, A. T., El‐Haroun, E., & Abdelhamid, A. F. (2025) · Frontiers in Marine Science · doi:10.3389/fmars.2025.1532370 · Cited by 5
Lee, K.-H., Lee, Y.-K., Kwon, D.-N., Chiu, S., Chew, V. W., Rah, H., Kujawski, G., Melhem, R., Hsu, K. J., Chung, C. J., et al. (2011) · Experimental and Molecular Pathology · doi:10.1016/j.yexmp.2011.02.007 · Cited by 5
SNPest: a probabilistic graphical model for estimating genotypes
Lindgreen, S., Krogh, A., & Pedersen, J. S. (2014) · BMC Research Notes · doi:10.1186/1756-0500-7-698 · Cited by 5
Sequencing and annotated analysis of an Estonian human genome
Lilleoja, R., Tagoma, A., Reimann, E., Reemann, P., Jaakma, Ü., Vasar, E., & Kõks, S. (2011) · Gene · doi:10.1016/j.gene.2011.11.022 · Cited by 5
Small Insertions Are More Deleterious than Small Deletions in Human Genomes
Huang, S., Li, J., Xu, A., Huang, G., & You, L. (2013) · Human Mutation · doi:10.1002/humu.22435 · Cited by 5
“Currently available personal genome sequences and the phase 1 genotype data from the 1000 Genomes Project permit the evaluation of human-genome variation on the whole-genome population scale [1000 Genomes Project Consortium, 2012; The 1000 Genomes Project Consortium, 2012; Levy et al., 2007; Suk et al., 2011; Wang et…”
BackgroundSelf-citationClinical applications of molecular genetic discoveries
Marian, A. J. (2015) · Translational research · doi:10.1016/j.trsl.2015.10.005 · Cited by 5
“hundred thousands small indels and SVs, including large duplications, insertions, deletions, and re-arrangements (22-25).”
BackgroundDetermination of haplotypes at structurally complex regions using emulsion haplotype fusion PCR
Tyson, J., & Armour, J. A. L. (2012) · BMC Genomics · doi:10.1186/1471-2164-13-693 · Cited by 5
“There are numerous statistical approaches for inferring phase (example algorithms highlighted in [2,14]), and whilst successful over short distances and frequently used in the post-HapMap era [9,15], these are not always reliable for regions of low linkage disequilibrium (LD) or for rare variants (2).”
Li, X., Liu, J., Wang, K., Zhou, J., Zhang, H., Zhang, M., & Shi, Y. (2020) · Pathology - Research and Practice · doi:10.1016/j.prp.2020.152873 · Cited by 5
An integrated Asian human SNV and indel benchmark established using multiple sequencing methods
Huang, C., Shao, L., Qu, S., Rao, J., Cheng, T., Cao, Z., Liu, S., Hu, J., Liang, X., Shang, L., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-66605-6 · Cited by 5
Self-citationpriyadharishni.A.K, S. (2012) · Cited by 5
High performance computing for dna sequence alignment and assembly
Salzberg, S. L., & Schatz, M. C. (2010) · IEEE International Conference on High Performance Computing, Data, and Analytics · Cited by 5
Nishishita, K., Sakai, E., Okamoto, K., & Tsukuba, T. (2013) · Gene · doi:10.1016/j.gene.2013.01.013 · Cited by 5
AirLift: A Fast and Comprehensive Technique for Remapping Alignments Between Reference Genomes
Kim, J. S., Fırtına, C., Cavlak, M. B., Cali, D. S., Hajinazar, N., Alser, M., Alkan, C., & Mutlu, O. (2024) · IEEE Transactions on Computational Biology and Bioinformatics · doi:10.1109/tcbb.2024.3433378 · Cited by 5
“Third, researchers are beginning to use highly-specific reference genomes that better represent diverse populations and ethnic groups [2,19,20,21,22,23,24,25].”
BackgroundNovel mutation in exon 56 of the dystrophin gene in a child with Duchenne muscular dystrophy
Zhu, J., LIU, H.-H., Zhou, T., & Tian, L. (2013) · International Journal of Molecular Medicine · doi:10.3892/ijmm.2013.1498 · Cited by 5
“…find the newly identified mutation in exon 56 of the dystrophin gene (c.8284dupA), which results in a frameshift mutation and a premature termination 10 codons downstream (p.Ile2762Asnfs * 10) by stop codon TGA, which is thus far the most frequent point mutation found in the DMD gene (10/47) (22).”
Direct-to-Consumer Genetic and Genomic Testing: Preparing Nurse Practitioners for Genomic Healthcare
Loud, J. T. (2010) · The Journal for Nurse Practitioners · doi:10.1016/j.nurpra.2010.06.007 · Cited by 5
Revising a Personal Genome by Comparing and Combining Data from Two Different Sequencing Platforms
Kim, D., Kim, W.-Y., Lee, S.-Y., Lee, S.-Y., Yun, H., Shin, S.-Y., Lee, J., Hong, Y., Won, Y., Kim, S.-J., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0060585 · Cited by 5
“Genome re-sequencing was reported as being prone to heterozygous-to-homozygous sequencing errors because additional sequencing depth is required to accurately call heterozygous variants [26].”
BackgroundCirculation Research and Human Genetic Studies
Marian, A., & Bolli, R. (2010) · Circulation Research · doi:10.1161/circresaha.110.226258 · Cited by 4
The first Irish genome and ways of improving sequence accuracy
Ju, Y., Yoo, Y. J., Kim, J.-I., & Seo, J.-S. (2010) · Genome Biology · doi:10.1186/gb-2010-11-9-132 · Cited by 5
“Consequently, in low-depth sequencing, both the detection of sensitivity and the positive predictive value of genomic variants are compromised [4].”
BackgroundWang, K., Shen, X., & Williams, R. (2020) · New Genetics and Society · doi:10.1080/14636778.2020.1843148 · Cited by 4
Connecting the Human Variome Project to nutrigenomics
Kaput, J., Evelo, C. T., Perozzi, G., van Ommen, B., & Cotton, R. G. H. (2010) · Genes & Nutrition · doi:10.1007/s12263-010-0186-6 · Cited by 4
“, [5, 38, 66, 67]), along with gene-specific re-sequencing efforts suggest that a larger number of SNPs than previously determined, as well as other sequence variation, exist in the human population.”
BackgroundRaveendar, S., Chung, J., Lee, G.-A., Lee, J. R., Lee, K. J., Shin, M., Cho, Y.-H., & Ma, K. (2016) · Plant Breeding and Biotechnology · doi:10.9787/pbb.2016.4.3.306 · Cited by 4
“Central Asia 4 38 East Asia 5 118 South Asia 5 52 South West Asia 2 18 South East Asia 7 120 West Asia 2 9 Total 25 355 (Wang et al. 2008).”
BackgroundMolecular Marker–Assisted Selective Breeding of Largemouth Bass
Junjie, B., & Li, S. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-816473-0.00005-0 · Cited by 4
Self-citationMulti-Thread Concurrent Compression Algorithm for Genomic Big Data
Ji, Y., Chen, S., Yao, H., Fang, H., Li, K., Liu, S., Xie, Z., & Wang, K. (2019) · International Conference on Parallel and Distributed Computing, Applications and Technologies (PDCAT) · doi:10.1109/pdcat46702.2019.00093 · Cited by 4
“The genomic dataset of the 1000 Genome Project [9], was firstly selected in this manuscript.”
MethodNiu, L., He, H., Zhang, Y., Yang, J., Zhao, Q., Xing, G., Zhong, X., & Yang, X. (2021) · Transgenic Research · doi:10.1007/s11248-020-00225-8 · Cited by 4
A Comparative Study on the Evaluation of k-mer Indexing in Genome Sequence Compression
Roy, S., & Mukhopadhyay, A. (2023) · Communications in computer and information science · doi:10.1007/978-3-031-48876-4_3 · Cited by 4
Overview of Policy, Ethical, and Social Considerations in Genomic and Personalized Medicine
Haga, S. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-800685-6.00005-9 · Cited by 3
Tilwari, A., Chouhan, D., & Sharma, R. (2013) · African Journal of Microbiology Research · doi:10.5897/ajmr12.1720 · Cited by 4
Genetic Basis of Human Biodiversity: An Update
Barbujani, G., & Colonna, V. (2011) · Springer eBooks · doi:10.1007/978-3-642-20992-5_6 · Cited by 5
Countering Gattaca: Efficient and Secure Testing of Fully-Sequenced Human Genomes (Full Version)Preprint
Baldi, P., Baronio, R., Cristofaro, E. D., Gasti, P., & Tsudik, G. (2011) · arXiv (Cornell University) · doi:10.48550/arxiv.1110.2478 · Cited by 4
“…Tsudik Institute for Genomics and Bioinformatics Department of Computer Science {pfbaldi,rbaronio,edecrist,pgasti,gts}@uci.edu University of California, Irvine ABSTRACT Recent advances in DNA sequencing technologies have put ubiquitous availability of fully sequenced human genomes within reach.”
Read Mapping Near Non-Volatile MemoryPreprint
Khatamifard, S. K., Chowdhury, Z. I., Pande, N., Razaviyayn, M., Kim, C., & Karpuzcu, U. R. (2017) · arXiv (Cornell University) · doi:10.48550/arxiv.1709.02381 · Cited by 4
“01% represents a conservative estimate [8, 16], which renders P(iii)≈ 1.”
BackgroundDeePhy: A Deep Learning Model to Reconstruct Phylogenetic Tree from Unaligned Nucleotide SequencesPreprint
Mahapatra, A., & Mukherjee, J. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.03.09.642239 · Cited by 4
Liu, Q., Wang, Q., Ning, L., Chen, Z., Zhang, C., Liu, Y., Qian, B., Guo, J., & Yin, Y. (2024) · Scientific Reports · doi:10.1038/s41598-024-83403-6 · Cited by 3
“Studies show that deep sequencing can comprehensively cover complex genomes (Wang et al. 27 ), laying the groundwork for precise whole-genome research (Ajay et al 1 .).”
Song, L. (2011) · InTech eBooks · doi:10.5772/18865 · Cited by 2
“They compared the 3 known genome sequences and recognized that the genomes of YH, Venter, and Watson shared 1.2 million SNPs, and their unique SNPs were 31.8% (YH), 30.1% (Venter), and 33.0% (Watson) separately (J. Wang et al., 2008).”
BackgroundInfluentialStructural Genomic Variation in the Human Genome
Lee, C. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-382227-7.00010-0 · Cited by 3
Perfil genómico de riesgo en la práctica clínica
Raggio, V. E., & Roche, L. (2009) · DOAJ (DOAJ: Directory of Open Access Journals) · Cited by 3
López, S., García, I., Zubiaga, I. S., Sevilla, A., Izagirre, N., Vaca, C. D. L. R., & Alonso, S. (2014) · Annals of Human Biology · doi:10.3109/03014460.2014.965202 · Cited by 3
“…have revealed the existence of rare large structural variants comprising the pigmentary genes SLC24A5 (Wong et al., 2007), MC1R (Perry et al., 2008; Xu et al., 2011), TYR (Mills et al., 2006; Wang et al., 2008), TYRP1 (Redon et al., 2006; Simon-Sanchez et al., 2007) and DCT (Gusev et al., 2009).”
BackgroundThe research progress of human genetic diversity in China
Yang, Z., & Chu, J. (2012) · Hereditas (Beijing) · doi:10.3724/sp.j.1005.2012.01351 · Cited by 3
“6%尚未收录在NCBI的dbSNP数据库 中。并通过与现有HapMap数据的对比分析, 推测中 国人的遗传有效种群大小(Effective population size) 约为 3300~5700, 还发现了具有种群特异性的基因 组结构变异和功能基因([68])。在随后进行的泛基因组 (pan-genome)研究中 , 我国学者通过对炎黄一号进 一步的深度测序和拼接, 并将其与非洲人基因组比 较, 发现了约 5 Mb的新序列。此外还发现, 人类基”
BackgroundSelf-citationA pipeline for local assembly of minisatellite alleles from single-molecule sequencing data
Ogeh, D. N., & Badge, R. M. (2016) · Bioinformatics · doi:10.1093/bioinformatics/btw687 · Cited by 3
Integrated microfluidic systems for genetic analysis
Jakaratanopas, S., Zhuang, B., Gan, W., & Liu, P. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-819971-8.00004-4 · Cited by 3
The sequencing and interpretation of the genome obtained from a Serbian individual
Ismail, W. M., Pagel, K. A., Pejaver, V. R., Zhang, S. V., Casasa, S., Mort, M. E., Cooper, D. N., Hahn, M. W., & Predrag Radivojac, A. (2018) · PLoS ONE · doi:10.1371/journal.pone.0208901 · Cited by 3
“To date, individual genomes from American [25, 51], Han Chinese [48], Russian [6], African [39], Japanese [13], German [43], Gujarati Indian [18], Estonian [27], Pakistani [2] and Mongolian [3] populations have been sequenced and analyzed, among many others [8].”
BackgroundExploring the Implications of INDELs in Neuropsychiatric Genetics: Challenges and Perspectives
Lemos, R. R., de Souza, M. B. R., & de Oliveira, J. R. M. (2012) · Journal of Molecular Neuroscience · doi:10.1007/s12031-012-9714-8 · Cited by 4
Banques de données de mutations : enjeux et perspectives pour les maladies génétiques orphelines
Humbertclaude, V. T., Tuffery‐Giraud, S., Bareil, C., Thèze, C., Paulet, D., Desmet, F.-O., Hamroun, D., Baux, D., Girardet, A., Collod‐Béroud, G., et al. (2009) · Pathologie Biologie · doi:10.1016/j.patbio.2009.09.008 · Cited by 3
“[60] Wang J, Wang W, Li R, Li Y, Tian G, Goodman.”
BackgroundAllelic methylation status of CpG islands on chromosome 21q in patients with Trisomy 21
Xia, Y., Ding, Y., Liu, X.-Q., Chen, X., Cheng, S., Li, L., Ma, M., He, J., & Wang, Y. (2014) · Molecular Medicine Reports · doi:10.3892/mmr.2014.1985 · Cited by 3
Self-citationMedical relevance of UK-funded non-human primate research published from January 1997 to July 2012
Moore, E. (2014) · Journal of the Royal Society of Medicine · doi:10.1177/0141076814530686 · Cited by 3
“Obesity 1 0 0 266 Journal of the Royal Society of Medicine 107(7)”
BackgroundResultMeasuring Consequences of Protein Misfolding and Cellular Stress Using OMICS Techniques
Bross, P., Palmfeldt, J., Hansen, J., Vang, S., & Gregersen, N. (2010) · Methods in molecular biology · doi:10.1007/978-1-60761-756-3_8 · Cited by 3
Integrated microfluidic systems for genetic analysis
Zhuang, B., Gan, W., & Liu, P. (2013) · Elsevier eBooks · doi:10.1533/9780857097040.4.465 · Cited by 3
Whole-genome resequencing of 100 healthy individuals using DNA pooling
Wang, X., Sui, W., Wu, W., Hou, X., Ou, M., Xiang, Y., & Dai, Y. (2016) · Experimental and Therapeutic Medicine · doi:10.3892/etm.2016.3797 · Cited by 3
“Following quality control, the library generated was used in the cBot System for cluster generation and the samples were then analysed using the Solexa sequencing system (HiSeq 2000 platform; Illumina, Inc.), which is based on sequencing‑by‑synthesis technology (7,8,26).”
Luo, Q., Guo, C., Zhang, Y. J., Cai, Y., & Liu, G. (2018) · BMC Bioinformatics · doi:10.1186/s12859-018-2230-2 · Cited by 3
“We selected the first Chinese standard genome sequence map YH-1 [28] sequenced by BGI, Korean gene data KOREF_200090131 (KOR131 for short) and KOREF_20090224 (KOR224 for short) [29].”
MethodShrikant, P., Stanam, A., & Zhu, Y. (2018) · Journal of Bioinformatics and Sequence Analysis · doi:10.5897/jbsa2018.0109 · Cited by 3
“7 M read pairs, sequenced from YH1 Cell-line DNA using Illumina HiSeq 2000 (Wang et al., 2008).”
MethodInfluentialHaga, S. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-382227-7.00034-3
DNA Analysis and the Classic Goal of Forensic Anthropology
Cabo, L. L. (2012) · Wiley eBooks · doi:10.1002/9781118255377.ch22 · Cited by 3
Bioinformatics' approaches to detect genetic variation in whole genome sequencing data
Kerstens, H. H. D. (2010) · doi:10.18174/151106 · Cited by 3
Moving Towards Third‐Generation Sequencing Technologies
Janitz, K., & Janitz, M. (2011) · doi:10.1002/9783527644582.ch20 · Cited by 3
High‐Throughput Single Nucleotide Polymorphisms Genotyping Technologies
Seng, K. C., Kasiman, K., & Seng, C. K. (2009) · Wiley eBooks · doi:10.1002/9780470015902.a0021631 · Cited by 3
In tough times, personalized medicine needs specific partners
Ballantyne, C. (2008) · Nature Medicine · doi:10.1038/nm1208-1294 · Cited by 3
AirLift: A Fast and Comprehensive Technique for Translating Alignments between Reference GenomesPreprint
Kim, J. S., Fırtına, C., Cavlak, M. B., Cali, D. S., Alser, M., Hajinazar, N., Alkan, C., & Mutlu, O. (2019) · arXiv (Cornell University) · Cited by 3
Genome-Wide Identification of Specific Genetic Loci Common to Sheep and Goat
Liang, Z., Yue, X., Liu, Y., Ye, M., Zhong, L., Luan, Y., & Wang, Q. (2024) · Biomolecules · doi:10.3390/biom14060638 · Cited by 2
“As next-generation sequencing (NGS) technologies become more and more popular, high-quality genome assemblies and accurate genome annotations are rapidly accumulating for various organisms, as well as for whole-genome resequencing data [16–20].”
Background
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
