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Most cited papers from Complete Genomics (United States)

What are the most cited papers from Complete Genomics (United States)?

The most cited paper from Complete Genomics (United States) is "Second-generation PLINK: rising to the challenge of larger and richer datasets" (Christopher C. Chang, Carson C. Chow, Laurent CAM Tellier et al., 2015), with 14,446 citations. Next come "A second generation human haplotype map of over 3.1 million SNPs" (4,615) and "MYD88 L265P Somatic Mutation in Waldenström's Macroglobulinemia" (1,298).

Showing 50 of 61 papers. Every paper with more than 44 citations is listed.

Most cited papers, sortable by citations and release date
#Paper
1 Second-generation PLINK: rising to the challenge of larger and richer datasets Christopher C. Chang, Carson C. Chow, Laurent CAM Tellier et al. · GigaScience Open access 24 Feb 2015 14,446
2 A second generation human haplotype map of over 3.1 million SNPs Sarah Shaw Murray et al. · Nature Open access211 authors Oct 2007 4,615
3 MYD88 L265P Somatic Mutation in Waldenström's Macroglobulinemia Steven Peter Treon, Lian Xu, Guang Yang et al. · New England Journal of Medicine Open access 29 Aug 2012 1,298
4 Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays Radoje Drmanac et al. · Science 5 Nov 2009 1,259
5 Genome sequencing identifies major causes of severe intellectual disability Christian Gilissen et al. · Nature Open access 3 Jun 2014 1,173
6 Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing Jared C. Roach, Gustavo Glusman, Arian F. A. Smit et al. · Science Open access 10 Mar 2010 1,128
7 Genome dynamics of the human embryonic kidney 293 lineage in response to cell biology manipulations Yao‐Cheng Lin, Morgane Boone, Leander Meuris et al. · Nature Communications Open access 3 Sep 2014 608
8 Genomic insights to SAR86, an abundant and uncultivated marine bacterial lineage Christopher L. Dupont, Douglas B. Rusch, Shibu Yooseph et al. · The ISME Journal Open access 15 Dec 2011 567
9 TGS-GapCloser: A fast and accurate gap closer for large genomes with low coverage of error-prone long reads Mengyang Xu, Lidong Guo, Shengqiang Gu et al. · GigaScience Open access Sep 2020 518
10 The mutation spectrum revealed by paired genome sequences from a lung cancer patient William E. Lee et al. · Nature May 2010 502
11 Variant in PNPLA3 is associated with alcoholic liver disease Chao Tian, Renee P. Stokowski, David Kershenobich et al. · Nature Genetics 29 Nov 2009 440
12 Retrograde Signaling by the Plastidial Metabolite MEcPP Regulates Expression of Nuclear Stress-Response Genes Yanmei Xiao, Tatyana Savchenko, Edward E. K. Baidoo et al. · Cell Open access Jun 2012 428
13 Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine Dimitri James Stavropoulos et al. · npj Genomic Medicine Open access 13 Jan 2016 390
14 The effects of hepatitis B virus integration into the genomes of hepatocellular carcinoma patients Zhaoshi Jiang et al. · Genome Research Open access 20 Jan 2012 358
15 A practical molecular assay to predict survival in resected non-squamous, non-small-cell lung cancer: development and international validation studies Johannes Ruediger Kratz et al. · The Lancet Open access 30 Jan 2012 338
16 Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism Christian Patrick Schaaf, Manuel L. Gonzalez‐Garay, Fan Xia et al. · Nature Genetics Open access 29 Sep 2013 312
17 Towards a novel classification of human malignancies based on gene expression patterns Ash A. Alizadeh, Douglas T. Ross, Charles M. Perou et al. · The Journal of Pathology Open access 2001 283
18 Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells Brock A. Peters et al. · Nature Open access Jul 2012 279
19 Efficient and unique cobarcoding of second-generation sequencing reads from long DNA molecules enabling cost-effective and accurate sequencing, haplotyping, and de novo assembly Ou Wang et al. · Genome Research Open access 2 Apr 2019 271
20 A public resource facilitating clinical use of genomes Mad Price Ball et al. · Proceedings of the National Academy of Sciences Open access 13 Jul 2012 247
21 Human papillomavirus and the landscape of secondary genetic alterations in oral cancers Maura L. Gillison, Keiko Akagi, Weihong Xiao et al. · Genome Research Open access 18 Dec 2018 243
22 Diagnosis of Sepsis with Cell-free DNA by Next-Generation Sequencing Technology in ICU Patients Yun Long, Yinxin Zhang, Yanping Gong et al. · Archives of Medical Research Jul 2016 243
23 Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing Béryl Royer‐Bertrand, Matteo Torsello, Donata Rimoldi et al. · The American Journal of Human Genetics Open access 16 Oct 2016 184
24 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease Jamie M. Ellingford, Stephanie Barton, Sanjeev S. Bhaskar et al. · Ophthalmology Open access 9 Feb 2016 173
25 miRNATissueAtlas2: an update to the human miRNA tissue atlas Andreas Keller, Laura Gröger, Thomas Tschernig et al. · Nucleic Acids Research Open access 8 Sep 2021 159
26 Interplay among BRAF, p16, p53, and MIB1 in pediatric low-grade gliomas Craig Horbinski, Marina N. Nikiforova, Jill M. Hagenkord et al. · Neuro-Oncology Open access 5 Apr 2012 157
27 Proteomics: applications in basic and applied biology N. Leigh Anderson, Alastair D Matheson, Sandra Steiner · Current Opinion in Biotechnology Review Aug 2000 156
28 Eukaryotic Regulatory Element Conservation Analysis and Identification Using Comparative Genomics Yueyi Liu, X. Shirley Liu, Liping Wei et al. · Genome Research Open access Mar 2004 153
29 Integrated Informatics Analysis of Cancer-Related Variants Kymberleigh A. Pagel, Rick Kim, Kyle Moad et al. · JCO Clinical Cancer Informatics Open access 31 Mar 2020 144
30 Type 2 Diabetes Risk Alleles Demonstrate Extreme Directional Differentiation among Human Populations, Compared to Other Diseases Rong Chen, Erik Corona, Martin Sikora et al. · PLoS Genetics Open access 12 Apr 2012 129
31 Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene Koji M. Nishiguchi et al. · Proceedings of the National Academy of Sciences Open access 16 Sep 2013 128
32 Extensive sequencing of seven human genomes to characterize benchmark reference materials Justin M. Zook et al. · bioRxiv (Cold Spring Harbor Laboratory) PreprintOpen access 15 Sep 2015 117
33 Back to the future: The human protein index (HPI) and the agenda for post-proteomic biology Norman G. Anderson, Norman G. Anderson, Alastair Matheson et al. · PROTEOMICS 2001 117
34 Comparison of long-read methods for sequencing and assembly of a plant genome Valentine Murigneux, Subash Kumar Rai, Agnelo Furtado et al. · GigaScience Open access Dec 2020 116
35 Single-Cell Transcriptome Analysis of Uniparental Embryos Reveals Parent-of-Origin Effects on Human Preimplantation Development Lizhi Leng, Jiya Sun, Jinrong Huang et al. · Cell stem cell Open access 3 Oct 2019 116
36 Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage Zirui Dong et al. · The American Journal of Human Genetics Open access 31 Oct 2019 111
37 Population Genetic Inference from Personal Genome Data: Impact of Ancestry and Admixture on Human Genomic Variation Jeffrey M. Kidd et al. · The American Journal of Human Genetics Open access Oct 2012 111
38 Personalized Pharmacogenomics Profiling Using Whole-Genome Sequencing Clint Mizzi, Brock A. Peters, Christina Mitropoulou et al. · Pharmacogenomics Jul 2014 102
39 A new massively parallel nanoball sequencing platform for whole exome research Yu Xu, Zhe Lin, Chong Tang et al. · BMC Bioinformatics Open access 25 Mar 2019 100
40 A portable and cost-effective microfluidic system for massively parallel single-cell transcriptome profiling Chuanyu Liu et al. · bioRxiv (Cold Spring Harbor Laboratory) PreprintOpen access 25 Oct 2019 97
41 Computational Techniques for Human Genome Resequencing Using Mated Gapped Reads Paolo Carnevali, Jonathan Baccash, Aaron L. Halpern et al. · Journal of Computational Biology Open access 16 Dec 2011 94
42 PSSMHCpan: a novel PSSM-based software for predicting class I peptide-HLA binding affinity Geng Liu, Dongli Li, Zhang Li et al. · GigaScience Open access 15 Mar 2017 85
43 De novo assembly of a haplotype-resolved human genome Hongzhi Cao et al. · Nature Biotechnology Open access 25 May 2015 82
44 Proteomics: Applications and opportunities in preclinical drug development Sandra Steiner, Frank A. Witzmann · Electrophoresis Jun 2000 77
45 The biomass of ground cherry husks derived carbon nanoplates for electrochemical sensing Xiuxiu Li, Hengyu Li, Hengyu Li et al. · Sensors and Actuators B Chemical 22 Sep 2017 76
46 Reliable multiplex sequencing with rare index mis-assignment on DNB-based NGS platform Qiaoling Li et al. · BMC Genomics Open access 13 Mar 2019 73
47 A whole-genome RNAi screen identifies an 8q22 gene cluster that inhibits death receptor-mediated apoptosis Nicholas Dompe, Celina Sanchez Rivers, Li Li et al. · Proceedings of the National Academy of Sciences Open access 26 Sep 2011 72
48 Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders Jasmine Jacob‐Hirsch, Eran Eyal, Binyamin A. Knisbacher et al. · Cell Research Open access 12 Jan 2018 69
49 The advent of personal genome sequencing Radoje Drmanac · Genetics in Medicine Open access 11 Feb 2011 65
50 SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia Matt C. Baker, Audrey J. Strongosky, Mónica Sánchez-Contreras et al. · Neurogenetics Open access 17 Oct 2013 64

Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for an institution when any of its authors gave it as an affiliation; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.