Cited by 3,684Genomics and Phylogenetic StudiesGenomics and Rare DiseasesGenomic variations and chromosomal abnormalities

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 access

Bentley, David R., Balasubramanian, Shankar, Swerdlow, Harold P., Smith, Geoffrey P., Milton, John, Brown, Clive G., Hall, Kevin P., Evers, Dirk J., Barnes, Colin L., Bignell, Helen R., Boutell, Jonathan M., Bryant, Jason, Carter, Richard J., Keira Cheetham, R., Cox, Anthony J., Ellis, Darren J., Flatbush, Michael R., Gormley, Niall A., Humphray, Sean J., Irving, Leslie J., Karbelashvili, Mirian S., Kirk, Scott M., Li, Heng, Liu, Xiaohai, Maisinger, Klaus S., Murray, Lisa J., Obradovic, Bojan, Ost, Tobias, Parkinson, Michael L., Pratt, Mark R., Rasolonjatovo, Isabelle M. J., Reed, Mark T., Rigatti, Roberto, Rodighiero, Chiara, Ross, Mark T., Sabot, Andrea, Sankar, Subramanian V., Scally, Aylwyn, Schroth, Gary P., Smith, Mark E., Smith, Vincent P., Spiridou, Anastassia, Torrance, Peta E., Tzonev, Svilen S., Vermaas, Eric H., Walter, Klaudia, Wu, Xiaolin, Zhang, Lu, Alam, Mohammed D., Anastasi, Carole, Aniebo, Ify C., Bailey, David M. D., Bancarz, Iain R., Banerjee, Saibal, Barbour, Selena G., Baybayan, Primo A., Benoit, Vincent A., Benson, Kevin F., Bevis, Claire, Black, Phillip J., Boodhun, Asha, Brennan, Joe S., Bridgham, John A., Brown, Rob C., Brown, Andrew A., Buermann, Dale H., Bundu, Abass A., Burrows, James C., Carter, Nigel P., Castillo, Nestor, Chiara E. Catenazzi, Maria, Chang, Simon, Neil Cooley, R., Crake, Natasha R., Dada, Olubunmi O., Diakoumakos, Konstantinos D., Dominguez-Fernandez, Belen, Earnshaw, David J., Egbujor, Ugonna C., Elmore, David W., Etchin, Sergey S., Ewan, Mark R., Fedurco, Milan, Fraser, Louise J., Fuentes Fajardo, Karin V., Scott Furey, W., George, David, Gietzen, Kimberley J., Goddard, Colin P., Golda, George S., Granieri, Philip A., Green, David E., Gustafson, David L., Hansen, Nancy F., Harnish, Kevin, Haudenschild, Christian D., Heyer, Narinder I., Hims, Matthew M., Ho, Johnny T., Horgan, Adrian M., Hoschler, Katya, Hurwitz, Steve, Ivanov, Denis V., Johnson, Maria Q., James, Terena, Huw Jones, T. A., Kang, Gyoung-Dong, Kerelska, Tzvetana H., Kersey, Alan D., Khrebtukova, Irina, Kindwall, Alex P., Kingsbury, Zoya, Kokko-Gonzales, Paula I., Kumar, Anil, Laurent, Marc A., Lawley, Cynthia T., Lee, Sarah E., Lee, Xavier, Liao, Arnold K., Loch, Jennifer A., Lok, Mitch, Luo, Shujun, Mammen, Radhika M., Martin, John W., McCauley, Patrick G., McNitt, Paul, Mehta, Parul, Moon, Keith W., Mullens, Joe W., Newington, Taksina, Ning, Zemin, Ling Ng, Bee, Novo, Sonia M., O’Neill, Michael J., Osborne, Mark A., Osnowski, Andrew, Ostadan, Omead, Paraschos, Lambros L., Pickering, Lea, Pike, Andrew C., Pike, Alger C., Chris Pinkard, D., Pliskin, Daniel P., Podhasky, Joe, Quijano, Victor J., Raczy, Come, Rae, Vicki H., Rawlings, Stephen R., Chiva Rodriguez, Ana, Roe, Phyllida M., Rogers, John, Rogert Bacigalupo, Maria C., Romanov, Nikolai, Romieu, Anthony, Roth, Rithy K., Rourke, Natalie J., Ruediger, Silke T., Rusman, Eli, Sanches-Kuiper, Raquel M., Schenker, Martin R., Seoane, Josefina M., Shaw, Richard J., Shiver, Mitch K., Short, Steven W., Sizto, Ning L., Sluis, Johannes P., Smith, Melanie A., Ernest Sohna Sohna, Jean, Spence, Eric J., Stevens, Kim, Sutton, Neil, Szajkowski, Lukasz, Tregidgo, Carolyn L., Turcatti, Gerardo, vandeVondele, Stephanie, Verhovsky, Yuli, Virk, Selene M., Wakelin, Suzanne, Walcott, Gregory C., Wang, Jingwen, Worsley, Graham J., Yan, Juying, Yau, Ling, Zuerlein, Mike, Rogers, Jane, Mullikin, James C., Hurles, Matthew E., McCooke, Nick J., West, John S., Oaks, Frank L., Lundberg, Peter L., Klenerman, David, Durbin, Richard, Smith, Anthony J.·2008·Nature

DOI 10.1038/nature07517PMC PMC2581791

Open this paper in CoChat — free account Open PDF

Abstract

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.

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

Crossref · 10.1038/nature07517

Cites

34 of 34 references verified0 citation errors · 0 not checkable

Statistics

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?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

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-citation
A 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
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
The ENCODE Project Consortium (2007) · Nature · doi:10.1038/nature05874 · Cited by 5,223
Self-citation
Finishing 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

Show all 36 references

2 of the 36 references couldn’t be matched to a known paper.

Sorted by citations

Items 101–200 of 1,010

Fast Identification and Removal of Sequence Contamination from Genomic and Metagenomic Datasets
Schmieder, R., & Edwards, R. A. (2011) · PLoS ONE · doi:10.1371/journal.pone.0017288 · Cited by 765
Limitations of next-generation genome sequence assembly
Alkan, C., Sajjadian, S., & Eichler, E. E. (2010) · Nature Methods · doi:10.1038/nmeth.1527 · Cited by 754
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
The 100, 0. G. P. P. I. (2021) · New England Journal of Medicine · doi:10.1056/nejmoa2035790 · Cited by 716
Overcoming ABC transporter-mediated multidrug resistance: Molecular mechanisms and novel therapeutic drug strategies.
Li, W., Zhang, H., Assaraf, Y. G., Zhao, K., Xu, X., Xie, J., Yang, D.-H., & Chen, Z.-S. (2016) · Drug Resistance Updates · doi:10.1016/j.drup.2016.05.001 · Cited by 673
Biases in Illumina transcriptome sequencing caused by random hexamer priming
Hansen, K. D., Brenner, S. E., & Dudoit, S. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq224 · Cited by 713
Relating the metatranscriptome and metagenome of the human gut
Franzosa, E. A., Morgan, X. C., Segata, N., Waldron, L., Reyes, J. A., Earl, A. M., Giannoukos, G., Boylan, M. R., Ciulla, D., Gevers, D., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1319284111 · Cited by 731
Targeting renal cell carcinoma with a HIF-2 antagonist
Chen, W., Hill, H., Christie, A., Kim, M. S., Holloman, E., Pavia-Jimenez, A., Homayoun, F., Ma, Y., Patel, N., Yell, P., et al. (2016) · Nature · doi:10.1038/nature19796 · Cited by 709
Navigating the tip of the genomic iceberg: Next‐generation sequencing for plant systematics
Straub, S. C. K., Parks, M., Weitemier, K., Fishbein, M., Cronn, R., & Liston, A. (2011) · American Journal of Botany · doi:10.3732/ajb.1100335 · Cited by 712
Analytical and clinical validation of a digital sequencing panel for quantitative, highly accurate evaluation of cell-free circulating tumor DNA
Lanman, R. B., Mortimer, S. A., Zill, O. A., Sebisanovic, D., Lopez, R., Blau, S., Collisson, E. A., Divers, S. G., Hoon, D. S. B., Kopetz, E. S., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0140712 · Cited by 695
“The 165 matched plasma and tissue samples were both analyzed on the Illumina Hi-Seq 2500 platform, the cfDNA analyzed using the digital sequencing method described herein and the DNA isolated from tissue samples analyzed using standard prep as per the manufacturer’s instructions [76].”
Method
A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries
Fisher, S., Barry, A. J., Abreu, J., Minie, B., Nolan, J., Delorey, T. M., Young, G., Fennell, T. J., Allen, A., Ambrogio, L., et al. (2011) · Genome biology · doi:10.1186/gb-2011-12-1-r1 · Cited by 676
Next-Generation Sequencing Platforms
Mardis, E. R. (2013) · Annual Review of Analytical Chemistry · doi:10.1146/annurev-anchem-062012-092628 · Cited by 728
High‐throughput DNA sequencing – concepts and limitations
Kircher, M., & Kelso, J. F. (2010) · BioEssays · doi:10.1002/bies.200900181 · Cited by 706
PathogenFinder - Distinguishing Friend from Foe Using Bacterial Whole Genome Sequence Data
Cosentino, S., Larsen, M. V., Aarestrup, F. M., & Lund, O. (2013) · PLoS ONE · doi:10.1371/journal.pone.0077302 · Cited by 696
The Pan-ErbB Negative Regulator Lrig1 Is an Intestinal Stem Cell Marker that Functions as a Tumor Suppressor
Powell, A. E., Wang, Y., Li, Y., Poulin, E. J., Means, A. L., Washington, M. K., Higginbotham, J. N., Juchheim, A., Prasad, N., Levy, S. E., et al. (2012) · Cell · doi:10.1016/j.cell.2012.02.042 · Cited by 694
LINE-1 Retrotransposition Activity in Human Genomes
Beck, C. R., Collier, P., Macfarlane, C., Malig, M., Kidd, J. M., Eichler, E. E., Badge, R. M., & Moran, J. V. (2010) · Cell · doi:10.1016/j.cell.2010.05.021 · Cited by 632
Experimental evolution of bet hedging
Beaumont, H. J. E., Gallie, J., Kost, C., Ferguson, G. C., & Rainey, P. B. (2009) · Nature · doi:10.1038/nature08504 · Cited by 665
Genotyping-by-sequencing (GBS), an ultimate marker-assisted selection (MAS) tool to accelerate plant breeding
He, J.-F., Zhao, X., Laroche, A., Lu, Z., Liu, H., & Li, Z. (2014) · Frontiers in Plant Science · doi:10.3389/fpls.2014.00484 · Cited by 676
Bacterial charity work leads to population-wide resistance
Lee, H. H., Molla, M. N., Cantor, C. R., & Collins, J. J. (2010) · Nature · doi:10.1038/nature09354 · Cited by 638
Diverse Sources of C. difficile Infection Identified on Whole-Genome Sequencing
Eyre, D. W., Cule, M., Wilson, D. J., Griffiths, D., Vaughan, A., O’Connor, L., Ip, C. L. C., Golubchik, T., Batty, E. M., Finney, J. M., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1216064 · Cited by 649
Multiple reference genomes and transcriptomes for Arabidopsis thaliana
Gan, X., Stegle, O., Behr, J., Steffen, J. G., Drewe, P., Hildebrand, K. L., Lyngsø, R. B., Schultheiß, S. J., Osborne, E. J., Sreedharan, V. T., et al. (2011) · Nature · doi:10.1038/nature10414 · Cited by 641
De novo assembly and genotyping of variants using colored de Bruijn graphs
Iqbal, Z., Cáccamo, M., Turner, I., Flicek, P., & McVean, G. (2012) · Nature Genetics · doi:10.1038/ng.1028 · Cited by 652
MEK1 mutations confer resistance to MEK and B-RAF inhibition
Emery, C. M., Vijayendran, K. G., Zipser, M. C., Sawyer, A. M., Niu, L., Kim, J. J., Hatton, C., Chopra, R., Oberholzer, P. A., Karpova, M. B., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0905833106 · Cited by 656
Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and Genome Analyzer systems
Minoche, A. E., Dohm, J. C., & Himmelbauer, H. (2011) · Genome biology · doi:10.1186/gb-2011-12-11-r112 · Cited by 620
Sensitive and accurate detection of copy number variants using read depth of coveragePreprint
Yoon, S. C., Xuan, Z., Makarov, V., Ye, K. Q., & Sebat, J. L. (2009) · Genome Research · doi:10.1101/gr.092981.109 · Cited by 640
CloudBurst: highly sensitive read mapping with MapReduce
Schatz, M. C. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp236 · Cited by 630
DNA-encoded chemistry: enabling the deeper sampling of chemical space
Goodnow, R. A., Dumelin, C. E., & Keefe, A. D. (2017) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2016.213 · Cited by 621
Simultaneous assay of every Salmonella Typhi gene using one million transposon mutantsPreprint
Langridge, G. C., Phan, M.-D., Turner, D., Perkins, T. T., Parts, L., Haase, J., Charles, I., Maskell, D. J., Peters, S. E., Dougan, G., et al. (2009) · Genome Research · doi:10.1101/gr.097097.109 · Cited by 641
LINE-1 elements in structural variation and disease
Beck, C. R., Garcia-Perez, J. L., Badge, R. M., & Moran, J. V. (2011) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082509-141802 · Cited by 615
Evaluation of next generation sequencing platforms for population targeted sequencing studies
Harismendy, O., Ng, P. C., Strausberg, R. L., Wang, X., Stockwell, T. B., Beeson, K. Y., Schork, N. J., Murray, S. S., Topol, E. J., Levy, S., et al. (2009) · Genome Biology · doi:10.1186/gb-2009-10-3-r32 · Cited by 614
Genetic architecture of artemisinin-resistant Plasmodium falciparum
Miotto, O., Amato, R., Ashley, E. A., MacInnis, B. L., Garcia, J. A., Amaratunga, C., Lim, P., Mead, D. G., Oyola, S. O., Dhorda, M., et al. (2015) · Nature Genetics · doi:10.1038/ng.3189 · Cited by 595
The genetic landscape of the epileptic encephalopathies of infancy and childhood
McTague, A., Howell, K. B., Cross, J. H., Kurian, M. A., & Scheffer, I. E. (2015) · The Lancet Neurology · doi:10.1016/s1474-4422(15)00250-1 · Cited by 609
Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries
Talkowski, M. E., Rosenfeld, J. A., Blumenthal, I., Pillalamarri, V., Chiang, C., Heilbut, A., Ernst, C., Hanscom, C., Rossin, E., Lindgren, A. M., et al. (2012) · Cell · doi:10.1016/j.cell.2012.03.028 · Cited by 577
Advancements in Next-Generation Sequencing
Levy, S., & Myers, R. (2016) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083115-022413 · Cited by 630
Sequence-specific error profile of Illumina sequencers
Nakamura, K., Oshima, T., Morimoto, T., Ikeda, S., Yoshikawa, H., Shiwa, Y., Ishikawa, S., Linak, M. C., Hirai, A. M., Takahashi, H., et al. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr344 · Cited by 619
Tabix: fast retrieval of sequence features from generic TAB-delimited files
Li, H. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btq671 · Cited by 575
Self-citation
Bayesian inference of ancient human demography from individual genome sequences
Gronau, I., Hubisz, M. J., Gulko, B., Danko, C. G., & Siepel, A. C. (2011) · Nature Genetics · doi:10.1038/ng.937 · Cited by 590
A survey of tools for variant analysis of next-generation genome sequencing data
Pabinger, S., Dander, A., Fischer, M., Snajder, R., Sperk, M., Efremova, M., Krabichler, B., Speicher, M. R., Zschocke, J., & Trajanoski, Z. (2013) · Briefings in Bioinformatics · doi:10.1093/bib/bbs086 · Cited by 631
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids
Rademakers, R., Baker, M., Nicholson, A. M., Rutherford, N. J., Finch, N., Soto-Ortolaza, A., Lash, J., Wider, C., Wojtas, A., DeJesus-Hernandez, M., et al. (2012) · Nature Genetics · doi:10.1038/ng.1027 · Cited by 571
Single-Cell Exome Sequencing and Monoclonal Evolution of a JAK2-Negative Myeloproliferative Neoplasm
Hou, Y., Song, L., Zhu, P., Zhang, B., Tao, Y., Xu, X., Li, F., Wu, K., Liang, J., Shao, D., et al. (2012) · Cell · doi:10.1016/j.cell.2012.02.028 · Cited by 541
Self-citation
Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition
Adey, A., Morrison, H. G., Asan, Xu, X., Kitzman, J. O., Turner, E. H., Stackhouse, B., MacKenzie, A. P., Caruccio, N. C., Zhang, X., et al. (2010) · Genome biology · doi:10.1186/gb-2010-11-12-r119 · Cited by 566
Comparative metatranscriptomics reveals kingdom level changes in the rhizosphere microbiome of plants
Turner, T. R., Karunakaran, R., Walshaw, J., Heavens, D., Alston, M. J., Swarbreck, D., Osbourn, A., Grant, A., & Poole, P. S. (2013) · The ISME Journal · doi:10.1038/ismej.2013.119 · Cited by 582
Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives
Zhao, M., Wang, Q., Wang, Q., Jia, P., & Zhao, Z. (2013) · BMC Bioinformatics · doi:10.1186/1471-2105-14-s11-s1 · Cited by 597
Microscopic examination of spatial transcriptome using Seq-Scope
Cho, C.-S., Xi, J., Si, Y., Park, S.-R., Hsu, J.-E., Kim, M., Jun, G., Kang, H. M., & Lee, J. H. (2021) · Cell · doi:10.1016/j.cell.2021.05.010 · Cited by 520
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data
Cooper, G. M., & Shendure, J. (2011) · Nature Reviews Genetics · doi:10.1038/nrg3046 · Cited by 593
SHRiMP: Accurate Mapping of Short Color-space Reads
Rumble, S. M., Lacroute, P., Dalca, A. V., Fiume, M., Sidow, A., & Brudno, M. (2009) · PLoS Comput. Biol. · doi:10.1371/journal.pcbi.1000386 · Cited by 639
Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
Fromer, M., Moran, J. L., Chambert, K., Banks, E., Bergen, S. E., Ruderfer, D. M., Handsaker, R. E., McCarroll, S. A., O’Donovan, M. C., Owen, M. J., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.08.005 · Cited by 578
Amplification-free Illumina sequencing-library preparation facilitates improved mapping and assembly of (G+C)-biased genomes
Kozarewa, I., Ning, Z., Quail, M. A., Sanders, M. J., Berriman, M., & Turner, D. J. (2009) · Nature Methods · doi:10.1038/nmeth.1311 · Cited by 578
Self-citation
ShortRead: a bioconductor package for input, quality assessment and exploration of high-throughput sequence data
Morgan, M. T., Anders, S., Lawrence, M. F., Aboyoun, P., Pagès, H., & Gentleman, R. C. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp450 · Cited by 545
Iron behaving badly: inappropriate iron chelation as a major contributor to the aetiology of vascular and other progressive inflammatory and degenerative diseases
Kell, D. B. (2009) · BMC Medical Genomics · doi:10.1186/1755-8794-2-2 · Cited by 554
Computational methods for discovering structural variation with next-generation sequencing
Medvedev, P., Stanciu, M., & Brudno, M. (2009) · Nature Methods · doi:10.1038/nmeth.1374 · Cited by 564
Advances and Trends in Omics Technology Development
Dai, X., & Shen, L. (2022) · Frontiers in Medicine · doi:10.3389/fmed.2022.911861 · Cited by 604
Single-stranded DNA library preparation for the sequencing of ancient or damaged DNA
Gansauge, M.-T., & Meyer, M. (2013) · Nature Protocols · doi:10.1038/nprot.2013.038 · Cited by 561
Ray: Simultaneous Assembly of Reads from a Mix of High-Throughput Sequencing Technologies
Boisvert, S., Laviolette, F., & Corbeil, J. (2010) · J. Comput. Biol. · doi:10.1089/cmb.2009.0238 · Cited by 563
Linking T-cell receptor sequence to functional phenotype at the single-cell level
Han, A. S., Glanville, J., Hansmann, L., & Davis, M. M. (2014) · Nature Biotechnology · doi:10.1038/nbt.2938 · Cited by 534
Characterization of the 18S rRNA Gene for Designing Universal Eukaryote Specific Primers
Hadziavdic, K., Lekang, K., Lanzén, A., Jonassen, I., Thompson, E. M., & Troedsson, C. (2014) · PLoS ONE · doi:10.1371/journal.pone.0087624 · Cited by 560
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encodingPreprint
McKernan, K. J., Peckham, H. E., Costa, G. L., McLaughlin, S. F., Fu, Y., Tsung, E. F., Clouser, C. R., Duncan, C., Ichikawa, J. K., Lee, C. C., et al. (2009) · Genome Research · doi:10.1101/gr.091868.109 · Cited by 535
Self-citation
ChIP-seq: Using high-throughput sequencing to discover protein–DNA interactions
Schmidt, D., Wilson, M. D., Spyrou, C., Brown, G. D., Hadfield, J., & Odom, D. T. (2009) · Methods · doi:10.1016/j.ymeth.2009.03.001 · Cited by 530
Comprehensive analysis of RNA-Seq data reveals extensive RNA editing in a human transcriptome
Peng, Z., Cheng, Y., Tan, B. C., Kang, L., Tian, Z., Zhu, Y., Zhang, W., Liang, Y., Hu, X., Tan, X., et al. (2012) · Nature Biotechnology · doi:10.1038/nbt.2122 · Cited by 506
Self-citation
Assembly of large genomes using second-generation sequencingPreprint
Schatz, M. C., Delcher, A. L., & Salzberg, S. L. (2010) · Genome Research · doi:10.1101/gr.101360.109 · Cited by 518
Complete Khoisan and Bantu genomes from southern Africa
Schuster, S. C., Miller, W., Ratan, A., Tomsho, L. P., Giardine, B. M., Kasson, L. R., Harris, R. S., Petersen, D. C., Zhao, F., Qi, J., et al. (2010) · Nature · doi:10.1038/nature08795 · Cited by 502
Self-citation
Transposon insertion sequencing: a new tool for systems-level analysis of microorganisms
van Opijnen, T., & Camilli, A. (2013) · Nature Reviews Microbiology · doi:10.1038/nrmicro3033 · Cited by 510
Infidelity of SARS-CoV Nsp14-Exonuclease Mutant Virus Replication Is Revealed by Complete Genome Sequencing
Eckerle, L. D., Becker, M. M., Halpin, R., Li, K., Venter, E., Lu, X., Scherbakova, S., Graham, R. L., Baric, R. S., Stockwell, T. B., et al. (2010) · PLoS Pathogens · doi:10.1371/journal.ppat.1000896 · Cited by 503
The 1001 Genomes Project for Arabidopsis thaliana
Weigel, D., & Mott, R. (2009) · Genome biology · doi:10.1186/gb-2009-10-5-107 · Cited by 507
Within-host evolution of bacterial pathogens
Didelot, X., Walker, A. S., Peto, T., Crook, D. W., & Wilson, D. J. (2016) · Nature Reviews Microbiology · doi:10.1038/nrmicro.2015.13 · Cited by 462
Analysis of Plasmodium falciparum diversity in natural infections by deep sequencing
Manske, M., Miotto, O., Campino, S. G., Auburn, S., Garcia, J. A., Maslen, G. L., O’Brien, J., DJIMDÉ, A. A., Doumbo, O. K., Zongo, I., et al. (2012) · Nature · doi:10.1038/nature11174 · Cited by 469
Searching for SNPs with cloud computing
Langmead, B., Schatz, M. C., Lin, J., Pop, M., & Salzberg, S. L. (2009) · Genome biology · doi:10.1186/gb-2009-10-11-r134 · Cited by 490
Spontaneous Mutation Accumulation Studies in Evolutionary Genetics
Halligan, D. L., & Keightley, P. D. (2009) · Annual Review of Ecology Evolution and Systematics · doi:10.1146/annurev.ecolsys.39.110707.173437 · Cited by 484
A first look at the Oxford Nanopore MinION sequencer
Mikheyev, A. S., & Tin, M. M. Y. (2014) · Molecular Ecology Resources · doi:10.1111/1755-0998.12324 · Cited by 483
Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
Calvo, S. E., Compton, A. G., Hershman, S. G., Lim, S. C., Lieber, D. S., Tucker, E. J., Laskowski, A., Garone, C., Liu, S., Jaffe, D. B., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003310 · Cited by 476
Human Genome Sequencing in Health and Disease
Gonzaga-Jauregui, C. G., Lupski, J. R., & Gibbs, R. A. (2011) · Annual Review of Medicine · doi:10.1146/annurev-med-051010-162644 · Cited by 491
High-throughput phenotyping using parallel sequencing of RNA interference targets in the African trypanosomePreprint
Alsford, S., Turner, D., Obado, S. O., Sánchez‐Flores, A., Glover, L., Berriman, M., Hertz‐Fowler, C., & Horn, D. (2011) · Genome Research · doi:10.1101/gr.115089.110 · Cited by 474
Next-generation sequencing technologies and their application to the study and control of bacterial infections
Besser, J., Carleton, H. A., Gerner‐Smidt, P., Lindsey, R. L., & Trees, E. (2017) · Clinical Microbiology and Infection · doi:10.1016/j.cmi.2017.10.013 · Cited by 468
Exome sequencing supports a de novo mutational paradigm for schizophrenia
Xu, B., Roos, J. L., Dexheimer, P. J., Boone, B. E., Plummer, B., Levy, S., Gogos, J. A., & Karayiorgou, M. (2011) · Nature Genetics · doi:10.1038/ng.902 · Cited by 474
Widespread RNA and DNA Sequence Differences in the Human Transcriptome
Li, M., Wang, I. X., Li, Y., Bruzel, A., Richards, A. L., Toung, J. M., & Cheung, V. G. (2011) · Science · doi:10.1126/science.1207018 · Cited by 462
Whole-Genome Sequencing of Bacterial Pathogens: the Future of Nosocomial Outbreak Analysis
Quainoo, S., Coolen, J. P. M., van Hijum, S. A. F. T., Huynen, M. A., Melchers, W. J. G., van Schaik, W., & Wertheim, H. F. L. (2017) · Clinical Microbiology Reviews · doi:10.1128/cmr.00016-17 · Cited by 488
Microdroplet-based PCR enrichment for large-scale targeted sequencing
Tewhey, R., Warner, J. B., Nakano, M., Libby, B., Medkova, M., David, P. H., Kotsopoulos, S. K., Samuels, M. L., Hutchison, J. B., Larson, J. W., et al. (2009) · Nature Biotechnology · doi:10.1038/nbt.1583 · Cited by 454
“(4) Primer library: primer pair droplets of library elements are mixed together so that each library element has an equal representation.”
The Genomic and Transcriptomic Landscape of a HeLa Cell Line
Landry, J. J. M., Pyl, P. T., Rausch, T., Zichner, T., Tekkedil, M. M., Stütz, A. M., Jauch, A. S., Aiyar, R. S., Pau, G., Delhomme, N., et al. (2013) · G3 Genes Genomes Genetics · doi:10.1534/g3.113.005777 · Cited by 455
Selective Ribosome Profiling Reveals the Cotranslational Chaperone Action of Trigger Factor In Vivo
Oh, E., Becker, A. H., Sandikci, A., Huber, D., Chaba, R., Gloge, F., Nichols, R. J., Typas, A., Gross, C. A., Krämer, G., et al. (2011) · Cell · doi:10.1016/j.cell.2011.10.044 · Cited by 468
cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate
Klambauer, G., Schwarzbauer, K., Mayr, A., Clevert, D.-A., Mitterecker, A., Bodenhofer, U., & Hochreiter, S. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks003 · Cited by 454
De novo assembly and characterization of root transcriptome using Illumina paired-end sequencing and development of cSSR markers in sweetpotato (Ipomoea batatas)
Wang, Z., Fang, B., Chen, J., Zhang, X., Luo, Z., Huang, L., Chen, X., & Li, Y. (2010) · BMC Genomics · doi:10.1186/1471-2164-11-726 · Cited by 433
Clinical Interpretation and Implications of Whole-Genome Sequencing
Dewey, F., Grove, M. E., Pan, C., Goldstein, B., Bernstein, J., Chaib, H., Merker, J., Goldfeder, R., Enns, G., David, S., et al. (2014) · Journal of the American Medical Association (JAMA) · doi:10.1001/jama.2014.1717 · Cited by 456
Estimation of genomic characteristics by analyzing k-mer frequency in de novo genome projectsPreprint
Liu, B., Shi, Y., Yuan, J., Hu, X., Zhang, H., Li, N., Li, Z., Chen, Y., Mu, D., & Fan, W. (2013) · arXiv (Cornell University) · doi:10.4230/lipics.cpm.2021.16 · Cited by 551
The emerging landscape of spatial profiling technologies
Moffitt, J. R., Lundberg, E., & Heyn, H. (2022) · Nature Reviews Genetics · doi:10.1038/s41576-022-00515-3 · Cited by 419
wANNOVAR: annotating genetic variants for personal genomes via the web
Chang, X., & Wang, K. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-100918 · Cited by 442
Lung microbiome: new insights into the pathogenesis of respiratory diseases
Li, R., Li, J., & Zhou, X. (2024) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-023-01722-y · Cited by 483
Single-molecule sequencing of an individual human genome
Pushkarev, D., Neff, N. F., & Quake, S. R. (2009) · Nature Biotechnology · doi:10.1038/nbt.1561 · Cited by 450
Profiling Critical Cancer Gene Mutations in Clinical Tumor Samples
MacConaill, L. E., Campbell, C. D., Kehoe, S. M., Bass, A. J., Hatton, C., Niu, L., Davis, M., Yao, K., Hanna, M., Mondal, C., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0007887 · Cited by 436
TRIM24 links a non-canonical histone signature to breast cancer
Tsai, W.-W., Wang, Z., Yiu, T. T., Akdemir, K. C., Xia, W., Winter, S., Tsai, C., Shi, X., Schwarzer, D., Plunkett, W. K., et al. (2010) · Nature · doi:10.1038/nature09542 · Cited by 453
Copy number variants, diseases and gene expression
Henrichsen, C. N., Chaignat, E., & Reymond, A. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp011 · Cited by 442
High-throughput bacterial genome sequencing: an embarrassment of choice, a world of opportunity
Loman, N. J., Constantinidou, C., Chan, J. Z.-M., Halachev, M. R., Sergeant, M. J., Penn, C. W., Robinson, E., & Pallen, M. J. (2012) · Nature Reviews Microbiology · doi:10.1038/nrmicro2850 · Cited by 426
Adapterama I: universal stubs and primers for 384 unique dual-indexed or 147,456 combinatorially-indexed Illumina libraries (iTru & iNext)
Glenn, T. C., Nilsen, R., Kieran, T. J., Sanders, J. G., Bayona‐Vásquez, N. J., Finger, J. W., Pierson, T. W., Bentley, K. E., Hoffberg, S. L., Louha, S., et al. (2019) · PeerJ · doi:10.7717/peerj.7755 · Cited by 426
Single-Cell Whole-Genome Amplification and Sequencing: Methodology and Applications
Huang, L., Ma, F., Chapman, A. R., Lü, S., & Xie, X. S. (2015) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090413-025352 · Cited by 427
Whole-genome sequence of Schistosoma haematobium
Young, N. D., Jex, A. R., Li, B., Liu, S., Yang, L., Xiong, Z., Li, Y., Cantacessi, C., Hall, R. S., Xu, X., et al. (2012) · Nature Genetics · doi:10.1038/ng.1065 · Cited by 422
Self-citation
Metagenomics: Tools and Insights for Analyzing Next-Generation Sequencing Data Derived from Biodiversity Studies
Oulas, A., Pavloudi, C., Polymenakou, P., Pavlopoulos, G. A., Papanikolaou, N., Kotoulas, G., Arvanitidis, C., & Iliopoulos, L. (2015) · Bioinformatics and Biology Insights · doi:10.4137/bbi.s12462 · Cited by 453
Chromatin immunoprecipitation (ChIP) of plant transcription factors followed by sequencing (ChIP-SEQ) or hybridization to whole genome arrays (ChIP-CHIP)
Kaufmann, K., Muiño, J. M., Østerås, M., Farinelli, L., Krajewski, P., & Angenent, G. C. (2010) · Nature Protocols · doi:10.1038/nprot.2009.244 · Cited by 417
Phylogenomics and a posteriori data partitioning resolve the Cretaceous angiosperm radiation Malpighiales
Xi, Z., Ruhfel, B. R., Schaefer, H., Amorim, A. M., Sugumaran, M., Wurdack, K. J., Endress, P. K., Matthews, M. L., Stevens, P. F., Mathews, S., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1205818109 · Cited by 411
Ancient DNA analysis
Orlando, L., Allaby, R., Skoglund, P., Der Sarkissian, C., Stockhammer, P. W., Ávila-Arcos, M. C., Fu, Q., Krause, J., Willerslev, E., Stone, A. C., et al. (2021) · Nature Reviews Methods Primers · doi:10.1038/s43586-020-00011-0 · Cited by 411
Dindel: Accurate indel calls from short-read dataPreprint
Albers, C. A., Lunter, G. A., MacArthur, D. G., McVean, G., Ouwehand, W. H., & Durbin, R. M. (2010) · Genome Research · doi:10.1101/gr.112326.110 · Cited by 407
Self-citation
New insights into the blood‐stage transcriptome of Plasmodium falciparum using RNA‐Seq
Otto, T. D., Wilinski, D., Assefa, S. A., Keane, T., Sarry, L. R., Böhme, U., Lemieux, J. E., Barrell, B. G., Pain, A., Berriman, M., et al. (2010) · Molecular Microbiology · doi:10.1111/j.1365-2958.2009.07026.x · Cited by 394
Intracontinental spread of human invasive Salmonella Typhimurium pathovariants in sub-Saharan Africa
Okoro, C. K., Kingsley, R. A., Connor, T. R., Harris, S. R., Parry, C. M., Al‐Mashhadani, M. N., Kariuki, S., Msefula, C. L., Gordon, M. A., de Pinna, E., et al. (2012) · Nature Genetics · doi:10.1038/ng.2423 · Cited by 408

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
Publisher: Springer Science and Business Media LLC
Published: 2008-11
Volume: 456
Issue: 7218
Pages: 53-59
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature07517
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: cc-by-nc-sa
creativecommons.org/licenses/by-nc-sa/3.0/ (tdm)
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

Accurate whole human genome sequencing using reversible terminator chemistry

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks