The DOI matches its Crossref record; 34 of the 36 references it cites were found in a registry or an index.
Accurate whole human genome sequencing using reversible terminator chemistry
Open accessAbstract
DNA sequence information underpins genetic research, enabling discoveries of important biological or medical benefit. Sequencing projects have traditionally used long (400–800 base pair) reads, but the existence of reference sequences for the human and many other genomes makes it possible to develop new, fast approaches to re-sequencing, whereby shorter reads are compared to a reference to identify intraspecies genetic variation. Here we report an approach that generates several billion bases of accurate nucleotide sequence per experiment at low cost. Single molecules of DNA are attached to a flat surface, amplified in situ and used as templates for synthetic sequencing with fluorescent reversible terminator deoxyribonucleotides. Images of the surface are analysed to generate high-quality sequence. We demonstrate application of this approach to human genome sequencing on flow-sorted X chromosomes and then scale the approach to determine the genome sequence of a male Yoruba from Ibadan, Nigeria. We build an accurate consensus sequence from >30× average depth of paired 35-base reads. We characterize four million single-nucleotide polymorphisms and four hundred thousand structural variants, many of which were previously unknown. Our approach is effective for accurate, rapid and economical whole-genome re-sequencing and many other biomedical applications. 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
“Over the last two years, with the further confirmation that the relatively short reads can be effectively assembled [15], especially with the great advantage of paired-end sequencing [54], the Illumina transcriptome or whole genome de novo sequencing and assembly have been successfully used for model [12,16,55-58]and non-model organisms [25-27,59].”
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 [15]
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 [15]
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
Mapping and quantifying mammalian transcriptomes by RNA-Seq
Mortazavi, A., Williams, B. A., McCue, K., Schaeffer, L., & Wold, B. (2008) · Nature Methods · doi:10.1038/nmeth.1226 · Cited by 13,696
Genome sequencing in microfabricated high-density picolitre reactors
Margulies, M., Egholm, M., Altman, W. E., Attiya, S., Bader, J. S., Bemben, L. A., Berka, J., Braverman, M. S., Chen, Y.-J., Chen, Z., et al. (2005) · Nature · doi:10.1038/nature03959 · Cited by 7,693
Base-Calling of Automated Sequencer Traces Using Phred. I. Accuracy AssessmentPreprint
Ewing, B., Hillier, L., Wendl, M. C., & Green, P. (1998) · Genome Research · doi:10.1101/gr.8.3.175 · Cited by 6,993
High-Resolution Profiling of Histone Methylations in the Human Genome
Barski, A., Cuddapah, S., Cui, K., Roh, T.-Y., Schones, D. E., Wang, Z., Wei, G., Chepelev, I., & Zhao, K. (2007) · Cell · doi:10.1016/j.cell.2007.05.009 · Cited by 6,845
The International HapMap Project
†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057
Self-citationA haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858
Base-Calling of Automated Sequencer Traces Using Phred. II. Error Probabilities
Ewing, B., & Green, P. (1998) · Genome Research · doi:10.1101/gr.8.3.186 · Cited by 5,439
The ENCODE Project Consortium (2007) · Nature · doi:10.1038/nature05874 · Cited by 5,223
Self-citationFinishing the euchromatic sequence of the human genome
International Human Genome Sequencing Consortium (2004) · Nature · doi:10.1038/nature03001 · Cited by 4,971
A second generation human haplotype map of over 3.1 million SNPs
The International HapMap Consortium (2007) · Nature · doi:10.1038/nature06258 · Cited by 4,438
Flagged first, then by citations
2 of the 36 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Items 701–800 of 1,010
Infection control in the new age of genomic epidemiology
Tang, P., Croxen, M. A., Hasan, M. R., Hsiao, W., & Hoang, L. (2017) · American Journal of Infection Control · doi:10.1016/j.ajic.2016.05.015 · Cited by 101
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma
Nassar, A. H., Alaiwi, S. A., AlDubayan, S. H., Moore, N., Mouw, K. W., Kwiatkowski, D. J., Choueiri, T. K., Curran, C. R., Berchuck, J. E., Harshman, L. C., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0720-x · Cited by 97
Shimizu, T., Marusawa, H., Endo, Y., & Chiba, T. (2012) · Cancer Science · doi:10.1111/j.1349-7006.2012.02293.x · Cited by 99
A systematic approach to the reporting of medically relevant findings from whole genome sequencing
McLaughlin, H. M., Ceyhan‐Birsoy, O., Christensen, K. D., Kohane, I. S., Krier, J. B., Lane, W. J., Lautenbach, D. M., Lebo, M. S., Machini, K., MacRae, C. A., et al. (2014) · BMC Medical Genetics · doi:10.1186/s12881-014-0134-1 · Cited by 96
CNV discovery for milk composition traits in dairy cattle using whole genome resequencing
Gao, Y., Jiang, J., Yang, S., Hou, Y., Liu, G. E., Zhang, S., Zhang, Q., & Sun, D. (2017) · BMC Genomics · doi:10.1186/s12864-017-3636-3 · Cited by 96
A Next-Generation Sequencing Primer—How Does It Work and What Can It Do?
Alekseyev, Y. O., Fazeli, S. R., Yang, S., Basran, R. K., Maher, T. A., Miller, N. S., & Remick, D. G. (2018) · Academic Pathology · doi:10.1177/2374289518766521 · Cited by 102
Baker, M. W., Atkins, A. E., Cordovado, S. K., Hendrix, M. M., Earley, M. C., & Farrell, P. M. (2015) · Genetics in Medicine · doi:10.1038/gim.2014.209 · Cited by 99
Petunia, Your Next Supermodel?
Vandenbussche, M., Chambrier, P., Bento, S. R., & Morel, P. (2016) · Frontiers in Plant Science · doi:10.3389/fpls.2016.00072 · Cited by 96
Shah, N. H., Wang, Q., Yan, Q., Karandur, D., Kadlecek, T. A., Fallahee, I., Russ, W. P., Ranganathan, R., Weiss, A., & Kuriyan, J. (2016) · eLife · doi:10.7554/elife.20105 · Cited by 97
The genome sequence of the spontaneously hypertensive rat: Analysis and functional significancePreprint
Atanur, S. S., Birol, İ., Guryev, V., Hirst, M., Hummel, O., Morrissey, C., Behmoaras, J. V., Fernández, X. M., Johnson, M. D., McLaren, W. M., et al. (2010) · Genome Research · doi:10.1101/gr.103499.109 · Cited by 97
Self-citationLiu, B., Morrison, C. D., Johnson, C. S., Trump, D. L., Qin, M., Conroy, J., Wang, J., & Liu, S. (2013) · Oncotarget · doi:10.18632/oncotarget.1537 · Cited by 96
Self-citationZaragoza, M. V., Fass, J., Diegoli, M., Lin, D., & Arbustini, E. (2010) · PLoS ONE · doi:10.1371/journal.pone.0012295 · Cited by 95
Lane, W. J., Westhoff, C. M., Uy, J. M., Aguad, M. D., Smeland‐Wagman, R., Kaufman, R. M., Rehm, H. L., Green, R. C., Silberstein, L. E., & for the MedSeq Project (2015) · Transfusion · doi:10.1111/trf.13416 · Cited by 95
Current state‐of‐art of STR sequencing in forensic genetics
Alonso, A., Barrio, P. A., Muller, P. H., Köcher, S., Berger, B., Martı́n, P., Bodner, M., Willuweit, S., Parson, W., Roewer, L., et al. (2018) · Electrophoresis · doi:10.1002/elps.201800030 · Cited by 95
Ma, M., Wang, C., Ding, Y., Li, L., Shen, D., Jiang, X. P., Guan, D., Cao, F., Chen, H., Feng, R., et al. (2010) · Journal of Bacteriology · doi:10.1128/jb.01234-10 · Cited by 95
Ning, J., Otto, T. D., Pfander, C., Schwach, F., Brochet, M., Bushell, E., Goulding, D., Sanders, M. J., Lefebvre, P. A., Pei, J., et al. (2013) · Genes & Development · doi:10.1101/gad.212746.112 · Cited by 95
Chin, E. L., da Silva, C., & Hegde, M. (2013) · BMC Genetics · doi:10.1186/1471-2156-14-6 · Cited by 92
Performance evaluation of indel calling tools using real short-read data
Hasan, M. S., Wu, X., & Zhang, L. (2015) · Human Genomics · doi:10.1186/s40246-015-0042-2 · Cited by 95
Self-citationSteuernagel, B., Taudien, S., Gundlach, H., Seidel, M. A., Ariyadasa, R., Schulte, D., Petzold, A., Felder, M., Graner, A., Scholz, U., et al. (2009) · BMC Genomics · doi:10.1186/1471-2164-10-547 · Cited by 94
Lightweight algorithms for constructing and inverting the BWT of string collections
Bauer, M. J., Cox, A. J., & Rosone, G. (2012) · Theoretical Computer Science · doi:10.1016/j.tcs.2012.02.002 · Cited by 91
Self-citationA draft genome assembly of the army worm, Spodoptera frugiperda
Kakumani, P. K., Malhotra, P., Mukherjee, S. K., & Bhatnagar, R. K. (2014) · Genomics · doi:10.1016/j.ygeno.2014.06.005 · Cited by 95
Next-Generation Sequencing and Its Application: Empowering in Public Health Beyond Reality
Gupta, N., & Verma, V. K. (2019) · Microorganisms for sustainability · doi:10.1007/978-981-13-8844-6_15 · Cited by 113
Directed Evolution of Aptamer Discovery Technologies
Wu, D., Gordon, C. K. L., Shin, J. H., Eisenstein, M. S., & Soh, H. T. (2022) · Accounts of Chemical Research · doi:10.1021/acs.accounts.1c00724 · Cited by 94
Mitochondrial Mutations and Polymorphisms in Psychiatric Disorders
Sequeira, A., Martin, M. V., Rollins, B. L., Moon, E. A., Bunney, W. E., Macciardi, F. M., Lupoli, S., Smith, E. N., Kelsoe, J. R., Magnan, C. N., et al. (2012) · Frontiers in Genetics · doi:10.3389/fgene.2012.00103 · Cited by 93
Characterizing bias in population genetic inferences from low-coverage sequencing data
Han, E., Sinsheimer, J. S., & Novembre, J. (2014) · Molecular Biology and Evolution · doi:10.1093/molbev/mst229 · Cited by 94
Kwok, H. F., Tong, A. H. Y., Lin, C. H., Lok, S., Farrell, P. J., Kwong, D. L. �., & Chiang, A. (2012) · PLoS ONE · doi:10.1371/journal.pone.0036939 · Cited by 93
Comparison of Sequencing Platforms for Single Nucleotide Variant Calls in a Human Sample
Ratan, A., Miller, W., Guillory, J., Stinson, J., Seshagiri, S., & Schuster, S. C. (2013) · PLoS ONE · doi:10.1371/journal.pone.0055089 · Cited by 95
ChIA-PET analysis of transcriptional chromatin interactions
Zhang, J., Poh, H. M., Peh, S. Q., Sia, Y. Y., Li, G., Mulawadi, F. H., Goh, Y., Fullwood, M. J., Sung, W.-K. K., Ruan, X., et al. (2012) · Methods · doi:10.1016/j.ymeth.2012.08.009 · Cited by 96
Review of massively parallel DNA sequencing technologies
Moorthie, S. A., Mattocks, C., & Wright, C. F. (2011) · The HUGO Journal · doi:10.1007/s11568-011-9156-3 · Cited by 101
Roeber, F., Jex, A. R., & Gasser, R. B. (2013) · Biotechnology Advances · doi:10.1016/j.biotechadv.2013.01.008 · Cited by 99
Cheng, A. Y., Teo, Y., & Ong, R. T. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btu067 · Cited by 92
Genomic Structure and Variation of Nuclear Factor (Erythroid-Derived 2)-Like 2
Cho, H. (2013) · Oxidative Medicine and Cellular Longevity · doi:10.1155/2013/286524 · Cited by 92
ReadXplorer 2—detailed read mapping analysis and visualization from one single source
Hilker, R., Stadermann, K. B., Schwengers, O., Anisiforov, E., Jaenicke, S., Weißhaar, B., Zimmermann, T., & Goesmann, A. (2016) · Bioinformatics · doi:10.1093/bioinformatics/btw541 · Cited by 91
Landscape of RNAs in human lumbar disc degeneration
Lan, P.-H., Liu, Z., Pei, Y., Wu, Z., Yu, Y., Yang, Y.-F., Liu, X., Che, L., Ma, C.-J., Xie, Y.-K., et al. (2016) · Oncotarget · doi:10.18632/oncotarget.11334 · Cited by 92
Self-citationAutomated typing of red blood cell and platelet antigens: a whole-genome sequencing study
Lane, W. J., Westhoff, C. M., Gleadall, N., Aguad, M. D., Smeland‐Wagman, R., Vege, S., Simmons, D. P., Mah, H. H., Lebo, M. S., Walter, K., et al. (2018) · The Lancet Haematology · doi:10.1016/s2352-3026(18)30053-x · Cited by 92
Self-citationYoung, N. D., Jex, A. R., Cantacessi, C., Hall, R. S., Campbell, B. E., Spithill, T. W., Tangkawattana, S., Tangkawattana, P., Laha, T., & Gasser, R. B. (2011) · PLoS neglected tropical diseases · doi:10.1371/journal.pntd.0001004 · Cited by 91
Challenges and opportunities of next‐generation sequencing: a cytopathologist's perspective
Vigliar, E., Malapelle, U., Luca, C. D., Bellevicine, C., & Troncone, G. (2015) · Cytopathology · doi:10.1111/cyt.12265 · Cited by 91
SeqWare Query Engine: storing and searching sequence data in the cloud
O’Connor, B. D., Merriman, B., & Nelson, S. F. (2010) · BMC Bioinformatics · doi:10.1186/1471-2105-11-s12-s2 · Cited by 92
Coprolites as a source of information on the genome and diet of the cave hyena
Bon, C., Berthonaud, V., Maksud, F., Labadie, K., Poulain, J., Artiguenave, F., Wincker, P., Aury, J., & Elalouf, J. (2012) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2012.0358 · Cited by 91
Personal genomes in progress: from the Human Genome Project to the Personal Genome Project
Lunshof, J. E., Bobe, J. R., Aach, J., Angrist, M. H., Thakuria, J. V., Vorhaus, D. B., Hoehe, M. R., & Church, G. M. (2010) · Dialogues in Clinical Neuroscience · doi:10.31887/dcns.2010.12.1/jlunshof · Cited by 90
Yi, G., Qu, L., Liu, J., Yan, Y., Xu, G., & Yang, N. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-962 · Cited by 92
Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms
Campbell, C. D., Sampas, N., Tsalenko, A., Sudmant, P. H., Kidd, J. M., Malig, M., Vu, T. H., Vives, L., Tsang, P. W. K., Bruhn, L., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.02.004 · Cited by 92
An extended IUPAC nomenclature code for polymorphic nucleic acids
Johnson, A. D. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq098 · Cited by 92
Genomic and metabolic analysis of fluoranthene degradation pathway in Celeribacter indicus P73T
Cao, J., Lai, Q., Yuan, J., & Shao, Z. (2015) · Scientific Reports · doi:10.1038/srep07741 · Cited by 90
Zhan, B., Fadista, J., Thomsen, B., Hedegaard, J., Panitz, F., & Bendixen, C. (2011) · BMC Genomics · doi:10.1186/1471-2164-12-557 · Cited by 92
Scaffolding a Caenorhabditis nematode genome with RNA-seqPreprint
Mortazavi, A., Schwarz, E. M., Williams, B. A., Schaeffer, L., Antoshechkin, I. A., Wold, B. J., & Sternberg, P. W. (2010) · Genome Research · doi:10.1101/gr.111021.110 · Cited by 87
Single Nucleotide Polymorphism Discovery in Cultivated Tomato via Sequencing by Synthesis
Hamilton, J. P., Sim, S., Stoffel, K. M., Deynze, A. V., Buell, C. R., & Francis, D. M. (2012) · The Plant Genome · doi:10.3835/plantgenome2011.12.0033 · Cited by 92
Design of association studies with pooled or un‐pooled next‐generation sequencing data
Kim, S. Y., Li, Y., Guo, Y., Li, R., Holmkvist, J., Hansen, T. F., Pedersen, O. B., Wang, J., & Nielsen, R. (2010) · Genetic Epidemiology · doi:10.1002/gepi.20501 · Cited by 89
Self-citationBergen, K., Steck, A., Strütt, S., Baccaro, A., Welte, W., Diederichs, K., & Marx, A. (2012) · Journal of the American Chemical Society · doi:10.1021/ja3017889 · Cited by 89
Single-nucleotide polymorphism discovery by high-throughput sequencing in sorghum
Nelson, J. C., Wang, S., Wu, Y., Li, X., Antony, G., White, F. F., & Yu, J. (2011) · BMC Genomics · doi:10.1186/1471-2164-12-352 · Cited by 92
Fanjul‐Fernández, M., Quesada, V., Cabanillas, R., Cadiñanos, J., Fontanil, T., Obaya, Á. J., Ramsay, A. J., Llorente, J. L., Astudillo, A., Cal, S., et al. (2013) · Nature Communications · doi:10.1038/ncomms3531 · Cited by 89
McCormick, K. P., Willmann, M. R., & Meyers, B. C. (2011) · Silence · doi:10.1186/1758-907x-2-2 · Cited by 92
Chen, F., Gaucher, E. A., Leal, N. A., Hutter, D., Havemann, S. A., Govindarajan, S., Ortlund, E. A., & Benner, S. A. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0908463107 · Cited by 89
Ayturk, U. M., Jacobsen, C. M., Christodoulou, D. C., Gorham, J., Seidman, J. G., Seidman, C. E., Robling, A. G., & Warman, M. L. (2013) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.1946 · Cited by 84
Gundry, M. C., & Vijg, J. (2011) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2011.10.001 · Cited by 86
Personalized treatment of Sézary syndrome by targeting a novel CTLA 4: CD 28 fusion
Sekulić, A., Liang, W. S., Tembe, W., Izatt, T., Kruglyak, S., Kiefer, J., Cuyugan, L., Zismann, V., Legendre, C., Pittelkow, M. R., et al. (2014) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.121 · Cited by 88
DNA Sequencing Sensors: An Overview
Garrido-Cárdenas, J. A., García‐Maroto, F., Bermejo, J. A. Á., & Manzano-Agugliaro, F. R. (2017) · Sensors · doi:10.3390/s17030588 · Cited by 88
Cirino, A. L., Lakdawala, N. K., McDonough, B. A., Conner, L., Adler, D. S., Weinfeld, M. S., O’Gara, P. T., Rehm, H. L., Machini, K., Lebo, M. S., et al. (2017) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.117.001768 · Cited by 88
Convergent Evolution of Slick Coat in Cattle through Truncation Mutations in the Prolactin Receptor
Porto-Neto, L. R., Bickhart, D. M., Landaeta‐Hernández, A. J., Utsunomiya, Y. T., Pagán, M., Jiménez, E., Hansen, P. J., Dikmen, S., Schroeder, S., Kim, E.-S., et al. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00057 · Cited by 94
DNA polymerases drive DNA sequencing-by-synthesis technologies: both past and present
Chen, C.-Y. (2014) · Frontiers in Microbiology · doi:10.3389/fmicb.2014.00305 · Cited by 88
Whittall, J. B., Syring, J. V., Parks, M., Buenrostro, J. D., DICK, C., Liston, A., & Cronn, R. (2010) · Molecular Ecology · doi:10.1111/j.1365-294x.2009.04474.x · Cited by 88
Higashino, A., Sakate, R., Kameoka, Y., Takahashi, I., Hirata, M., Tanuma, R., Masui, T., Yasutomi, Y., & Osada, N. (2012) · Genome biology · doi:10.1186/gb-2012-13-7-r58 · Cited by 93
Extensive relationship between antisense transcription and alternative splicing in the human genomePreprint
Morrissy, A. S., Griffith, M., & Marra, M. A. (2011) · Genome Research · doi:10.1101/gr.113431.110 · Cited by 88
Yu, Y., Wei, J., Zhang, X., Liu, J., Liu, C., Li, F., & Xiang, J. (2014) · PLoS ONE · doi:10.1371/journal.pone.0087218 · Cited by 90
Computational Techniques for Human Genome Resequencing Using Mated Gapped Reads
Carnevali, P., Baccash, J., Halpern, A., Nazarenko, I., Nilsen, G. B., Pant, K., Ebert, J. C., Brownley, A., Morenzoni, M., Karpinchyk, V., et al. (2012) · J. Comput. Biol. · doi:10.1089/cmb.2011.0201 · Cited by 95
Huptas, C., Scherer, S., & Wenning, M. (2016) · BMC Research Notes · doi:10.1186/s13104-016-2072-9 · Cited by 87
Chen, Z., Amro, E. M., Becker, F. R., Hölzer, M., Rasa, S. M. M., Njeru, S. N., Han, B., Sanzo, S. D., Chen, Y.-L., Tang, D., et al. (2018) · The Journal of Experimental Medicine · doi:10.1084/jem.20181505 · Cited by 88
Microbiological and molecular insights on rare Actinobacteria harboring bioactive prospective
Amin, D. H., Abdallah, N. A., Abolmaaty, A., Tolba, S. T. M., & Wellington, E. M. H. (2020) · Bulletin of the National Research Centre/Bulletin of the National Research Center · doi:10.1186/s42269-019-0266-8 · Cited by 87
Carøe, C., & Bohmann, K. (2020) · Molecular Ecology Resources · doi:10.1111/1755-0998.13227 · Cited by 92
Directing evolution of novel ligands by mRNA display
Kamalinia, G., Grindel, B. J., Takahashi, T. T., Millward, S. W., & Roberts, R. W. (2021) · Chemical Society Reviews · doi:10.1039/d1cs00160d · Cited by 96
Self-Indexed Grammar-Based Compression
Claude, F., & Navarro, G. (2011) · Fundamenta Informaticae · doi:10.3233/fi-2011-565 · Cited by 87
Protein Model Discrimination Using Mutational Sensitivity Derived from Deep Sequencing
Adkar, B. V., Tripathi, A., Sahoo, A., Pahuja, K. B., Goswami, D., Chakrabarti, P., Swarnkar, M. K., Gokhale, R. S., & Varadarajan, R. (2012) · Structure · doi:10.1016/j.str.2011.11.021 · Cited by 87
The Use of Metagenomic Approaches to Analyze Changes in Microbial Communities
Neelakanta, G., & Sultana, H. (2013) · Microbiology Insights · doi:10.4137/mbi.s10819 · Cited by 87
Enabling technologies of genomic-scale sequence enrichment for targeted high-throughput sequencing
Summerer, D. (2009) · Genomics · doi:10.1016/j.ygeno.2009.08.012 · Cited by 87
Regulatory Role of Glycerol in Candida albicans Biofilm Formation
Desai, J. V., Bruno, V. M., Ganguly, S., Stamper, R. J., Mitchell, K. F., Solis, N. V., Hill, E. M., Xu, W., Filler, S. G., Andes, D. R., et al. (2013) · mBio · doi:10.1128/mbio.00637-12 · Cited by 86
Zhou, W., Hu, Y., Sui, Z., Fu, F., Wang, J., Chang, L., Guo, W., & Li, B. (2013) · PLoS ONE · doi:10.1371/journal.pone.0069909 · Cited by 86
Self-citationEfficient hybrid de novo assembly of human genomes with WENGAN
Genova, A. D., Buena‐Atienza, E., Ossowski, S., & Sagot, M. (2020) · Nature Biotechnology · doi:10.1038/s41587-020-00747-w · Cited by 86
A target enrichment probe set for resolving the flagellate land plant tree of life
Breinholt, J. W., Carey, S. B., Tiley, G. P., Davis, E., Endara, L., McDaniel, S. F., Neves, L. G., Sessa, E. B., von Konrat, M., Chantanaorrapint, S., et al. (2021) · Applications in Plant Sciences · doi:10.1002/aps3.11406 · Cited by 86
Masri, L., Branca, A., Sheppard, A. E., Papkou, A., Laehnemann, D., Guenther, P. S., Prahl, S., Saebelfeld, M., Hollensteiner, J., Liesegang, H., et al. (2015) · PLoS Biology · doi:10.1371/journal.pbio.1002169 · Cited by 80
Wickramasinghe, S., Pacheco, A. R., Lemay, D. G., & Mills, D. A. (2015) · BMC Microbiology · doi:10.1186/s12866-015-0508-3 · Cited by 86
Rokyta, D. R., Wray, K. P., McGivern, J. J., & Margres, M. J. (2015) · Toxicon · doi:10.1016/j.toxicon.2015.02.015 · Cited by 85
Multiplex single-molecule interaction profiling of DNA-barcoded proteins
Gu, L., Li, C., Aach, J., HILL, D. E., Vidal, M., & Church, G. M. (2014) · Nature · doi:10.1038/nature13761 · Cited by 80
Winter, A. D., Weir, W., Hunt, M., Berriman, M., Gilleard, J. S., Devaney, E., & Britton, C. (2012) · BMC Genomics · doi:10.1186/1471-2164-13-4 · Cited by 89
High-throughput characterization of protein–protein interactions by reprogramming yeast mating
Younger, D. A., Berger, S., Baker, D. A., & Klavins, E. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1705867114 · Cited by 85
de la Puente, M., Phillips, C., Xavier, C., Amigo, J., Carracedo, Á., Parson, W., & Lareu, M. V. (2019) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2019.102213 · Cited by 85
Rauwane, M. E., Ogugua, U. V., Kalu, C. M., Ledwaba, L. K., Woldesemayat, A. A., & Ntushelo, K. (2020) · Microorganisms · doi:10.3390/microorganisms8020305 · Cited by 85
Liquid Biopsy Based on Cell-Free DNA and RNA
Loy, C., Ahmann, L. S., Vlaminck, I. D., & Gu, W. (2024) · Annual Review of Biomedical Engineering · doi:10.1146/annurev-bioeng-110222-111259 · Cited by 86
Next-Generation Sequencing: Advantages, Disadvantages, and Future
Ari, Ş., & Arikan, M. (2016) · Plant Omics: Trends and Applications · doi:10.1007/978-3-319-31703-8_5 · Cited by 84
Using Genome Query Language to uncover genetic variation
Kozanitis, C., Heiberg, A., Varghese, G., & Bafna, V. (2013) · Bioinformatics · doi:10.1093/bioinformatics/btt250 · Cited by 84
A novel method of microsatellite genotyping-by-sequencing using individual combinatorial barcoding
Vartia, S., Villanueva‐Cañas, J. L., Finarelli, J. A., Farrell, E. D., Collins, P. C., Hughes, G. M., Carlsson, J. E. L., Gauthier, D. T., McGinnity, P., Cross, T. F., et al. (2016) · Royal Society Open Science · doi:10.1098/rsos.150565 · Cited by 92
Stafuzza, N. B., Zerlotini, A., Lobo, F. P., Yamagishi, M. E. B., Chud, T. C. S., Caetano, A. R., Munari, D. P., Garrick, D. J., Machado, M. A., Martins, M. F., et al. (2017) · PLoS ONE · doi:10.1371/journal.pone.0173954 · Cited by 84
Everson, T. M., Punshon, T., Jackson, B. P., Hao, K., Lambertini, L., Chen, J., Karagas, M. R., & Marsit, C. J. (2018) · Environmental Health Perspectives · doi:10.1289/ehp2192 · Cited by 87
High-throughput DNA synthesis for data storage
Yu, M., Tang, X., Li, Z., Wang, W., Wang, S., Li, M., Yu, Q., Xie, S., Zuo, X., & Chen, C. Q. (2024) · Chemical Society Reviews · doi:10.1039/d3cs00469d · Cited by 92
Transcriptome of embryonic and neonatal mouse cortex by high-throughput RNA sequencing
Han, X., Wu, X., Chung, W.-Y., Li, T., Nekrutenko, A., Altman, N. S., Chen, G., & Ma, H. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0902417106 · Cited by 83
Self-citationTackling the epigenome: challenges and opportunities for collaboration
Satterlee, J. S., Schübeler, D., & Ng, H. (2010) · Nature Biotechnology · doi:10.1038/nbt1010-1039 · Cited by 84
The multiplicity of divergence mechanisms in a single evolving population
Maharjan, R. P., Ferenci, T., Reeves, P. R., Li, Y., Liu, B., & Wang, L. (2012) · Genome biology · doi:10.1186/gb-2012-13-6-r41 · Cited by 84
An Introduction to Functional Genomics and Systems Biology
Bunnik, E. M., & Roch, K. G. L. (2013) · Advances in Wound Care · doi:10.1089/wound.2012.0379 · Cited by 83
Read count approach for DNA copy number variants detection
Magi, A., Tattini, L., Pippucci, T., Torricelli, F., & Benelli, M. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btr707 · Cited by 84
A novel and well-defined benchmarking method for second generation read mapping
Holtgrewe, M., Emde, A., Weese, D., & Reinert, K. (2011) · BMC Bioinformatics · doi:10.1186/1471-2105-12-210 · Cited by 86
A new massively parallel nanoball sequencing platform for whole exome research
Xu, Y., Lin, Z., Tang, C., Tang, Y., Cai, Y., Zhong, H., Wang, X., Zhang, W., Xu, C., Wang, J., et al. (2019) · BMC Bioinformatics · doi:10.1186/s12859-019-2751-3 · Cited by 83
Self-citation
Metadata
- Authors
- Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., Smith, G. P., Milton, J., Brown, C. G., Hall, K. P., Evers, D. J., Barnes, C. L., Bignell, H. R., Boutell, J. M., Bryant, J., Carter, R. J., Keira Cheetham, R., Cox, A. J., Ellis, D. J., Flatbush, M. R., Gormley, N. A., Humphray, S. J., Irving, L. J., Karbelashvili, M. S., Kirk, S. M., Li, H., Liu, X., Maisinger, K. S., Murray, L. J., Obradovic, B., Ost, T., Parkinson, M. L., Pratt, M. R., Rasolonjatovo, I. M. J., Reed, M. T., Rigatti, R., Rodighiero, C., Ross, M. T., Sabot, A., Sankar, S. V., Scally, A., Schroth, G. P., Smith, M. E., Smith, V. P., Spiridou, A., Torrance, P. E., Tzonev, S. S., Vermaas, E. H., Walter, K., Wu, X., Zhang, L., Alam, M. D., Anastasi, C., Aniebo, I. C., Bailey, D. M. D., Bancarz, I. R., Banerjee, S., Barbour, S. G., Baybayan, P. A., Benoit, V. A., Benson, K. F., Bevis, C., Black, P. J., Boodhun, A., Brennan, J. S., Bridgham, J. A., Brown, R. C., Brown, A. A., Buermann, D. H., Bundu, A. A., Burrows, J. C., Carter, N. P., Castillo, N., Chiara E. Catenazzi, M., Chang, S., Neil Cooley, R., Crake, N. R., Dada, O. O., Diakoumakos, K. D., Dominguez-Fernandez, B., Earnshaw, D. J., Egbujor, U. C., Elmore, D. W., Etchin, S. S., Ewan, M. R., Fedurco, M., Fraser, L. J., Fuentes Fajardo, K. V., Scott Furey, W., George, D., Gietzen, K. J., Goddard, C. P., Golda, G. S., Granieri, P. A., Green, D. E., Gustafson, D. L., Hansen, N. F., Harnish, K., Haudenschild, C. D., Heyer, N. I., Hims, M. M., Ho, J. T., Horgan, A. M., Hoschler, K., Hurwitz, S., Ivanov, D. V., Johnson, M. Q., James, T., Huw Jones, T. A., Kang, G.-D., Kerelska, T. H., Kersey, A. D., Khrebtukova, I., Kindwall, A. P., Kingsbury, Z., Kokko-Gonzales, P. I., Kumar, A., Laurent, M. A., Lawley, C. T., Lee, S. E., Lee, X., Liao, A. K., Loch, J. A., Lok, M., Luo, S., Mammen, R. M., Martin, J. W., McCauley, P. G., McNitt, P., Mehta, P., Moon, K. W., Mullens, J. W., Newington, T., Ning, Z., Ling Ng, B., Novo, S. M., O’Neill, M. J., Osborne, M. A., Osnowski, A., Ostadan, O., Paraschos, L. L., Pickering, L., Pike, A. C., Pike, A. C., Chris Pinkard, D., Pliskin, D. P., Podhasky, J., Quijano, V. J., Raczy, C., Rae, V. H., Rawlings, S. R., Chiva Rodriguez, A., Roe, P. M., Rogers, J., Rogert Bacigalupo, M. C., Romanov, N., Romieu, A., Roth, R. K., Rourke, N. J., Ruediger, S. T., Rusman, E., Sanches-Kuiper, R. M., Schenker, M. R., Seoane, J. M., Shaw, R. J., Shiver, M. K., Short, S. W., Sizto, N. L., Sluis, J. P., Smith, M. A., Ernest Sohna Sohna, J., Spence, E. J., Stevens, K., Sutton, N., Szajkowski, L., Tregidgo, C. L., Turcatti, G., vandeVondele, S., Verhovsky, Y., Virk, S. M., Wakelin, S., Walcott, G. C., Wang, J., Worsley, G. J., Yan, J., Yau, L., Zuerlein, M., Rogers, J., Mullikin, J. C., Hurles, M. E., McCooke, N. J., West, J. S., Oaks, F. L., Lundberg, P. L., Klenerman, D., Durbin, R., & Smith, A. J.
- Affiliations
- Illumina (United Kingdom) (GB)
- University of Cambridge (GB)
- Wellcome Sanger Institute (GB)
- Illumina (United States) (US)
- National Institutes of Health (US)
- Corresponding author
- Bentley, David R.
- ORCID
- Balasubramanian, Shankar
- Swerdlow, Harold P.
- Hall, Kevin P.
- Humphray, Sean J.
- Li, Heng
- Liu, Xiaohai
- Ross, Mark T.
- Scally, Aylwyn
- Schroth, Gary P.
- Spiridou, Anastassia
- Walter, Klaudia
- Wu, Xiaolin
- Bailey, David M. D.
- Brown, Andrew A.
- Fraser, Louise J.
- Gustafson, David L.
- Hansen, Nancy F.
- Horgan, Adrian M.
- Ivanov, Denis V.
- James, Terena
- Kang, Gyoung-Dong
- Kumar, Anil
- Lee, Sarah E.
- Luo, Shujun
- Martin, John W.
- Mehta, Parul
- Ning, Zemin
- O’Neill, Michael J.
- Rogers, John
- Romieu, Anthony
- Sanches-Kuiper, Raquel M.
- Shaw, Richard J.
- Smith, Melanie A.
- Turcatti, Gerardo
- Wang, Jingwen
- Yan, Juying
- Mullikin, James C.
- Hurles, Matthew E.
- Klenerman, David
- Durbin, Richard
- Venue
- Nature
- Published
- 2008-11
- Volume
- 456
- Issue
- 7218
- Pages
- 53-59
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC2581791
- OpenAlex
- W2012016911
- Cited by
- 3,684
- References
- 36
- Citations by year
- 2026: 95 · 2025: 110 · 2024: 150 · 2023: 122 · 2022: 127 · 2021: 165 · 2020: 175 · 2019: 157 · 2018: 183 · 2017: 194 · 2016: 233 · 2015: 235 · 2014: 260 · 2013: 307 · 2012: 330
- FWCI
- 115.18
- 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)
- DMU Open Research Archive (De Montfort University) (submittedVersion)
- Infoscience (Ecole Polytechnique Fédérale de Lausanne) (submittedVersion)
- Infoscience (Ecole Polytechnique Fédérale de Lausanne) (submittedVersion, cc-by-nc-nd)
- Funders
- Wellcome Trust
- National Institutes of Health
- Directorate for Biological Sciences
- Goddard Space Flight Center
- Biotechnology and Biological Sciences Research Council (B05823, MOL04534)
- National Human Genome Research Institute (Z01HG200330)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- whole-genome resequencing, single-molecule DNA sequencing, single nucleotide polymorphisms, structural variants, genetic ancestry, population genetic variation, X chromosome, consensus sequence, genome-wide association study
- MeSH terms
- Genotype, Humans, Male, Nigeria, Sensitivity and Specificity, Genome, Human, Consensus Sequence, Sequence Analysis, DNA, Polymorphism, Single Nucleotide, Genomics, Chromosomes, Human, X
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
