Most cited papers from Illumina (United States)

Illumina (United States)

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

The most cited paper from Illumina (United States) is "A global reference for human genetic variation" (Corresponding authors et al., 2015), with 20,444 citations. Next come "TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions" (13,857) and "The UK Biobank resource with deep phenotyping and genomic data" (10,121).

Published TypeFieldAccessAuthorsCitations

Showing 50 of 60 papers. Every paper with more than 935 citations is listed.

Most cited papers, sortable by citations and release date
#	Paper
1	A global reference for human genetic variation Corresponding authors et al. · Nature Open access815 authors	29 Sep 2015	20,444
2	TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions Daehwan Kim, Geo M. Pertea, Cole Trapnell et al. · Genome biology Open access	25 Apr 2013	13,857
3	The UK Biobank resource with deep phenotyping and genomic data Clare Bycroft, Colin Freeman, Desislava Petkova et al. · Nature Open access	2 Oct 2018	10,121
4	Ultra-high-throughput microbial community analysis on the Illumina HiSeq and MiSeq platforms J. Gregory Caporaso, Christian L. Lauber, William Anton Walters et al. · The ISME Journal Open access	8 Mar 2012	9,285
5	An integrated map of genetic variation from 1,092 human genomes Gil A. McVean et al. · Nature Open access363 authors	31 Oct 2012	8,281
6	Biological insights from 108 schizophrenia-associated genetic loci Stephan Ripke et al. · Nature Open access297 authors	Jul 2014	8,181
7	A map of human genome variation from population-scale sequencing Richard M. Durbin et al. · Nature Open access337 authors	26 Oct 2010	8,156
8	Circulating microRNAs as stable blood-based markers for cancer detection Patrick S. Mitchell, Rachael K. Parkin, Evan M. Kroh et al. · Proceedings of the National Academy of Sciences Open access	28 Jul 2008	8,040
9	The International HapMap Project Richard A. Gibbs et al. · Nature Open access183 authors	18 Dec 2003	6,187
10	Alternative isoform regulation in human tissue transcriptomes Eric T. Wang, Rickard Sandberg, Shujun J. Luo et al. · Nature Open access	Nov 2008	5,451
11	The zebrafish reference genome sequence and its relationship to the human genome Kerstin Howe et al. · Nature Open access177 authors	16 Apr 2013	5,261
12	The single-cell transcriptional landscape of mammalian organogenesis Junyue Cao, Malte Spielmann, Xiaojie Qiu et al. · Nature Open access	20 Feb 2019	4,970
13	Genetic studies of body mass index yield new insights for obesity biology The LifeLines Cohort Study et al. · Nature Open access487 authors	10 Feb 2015	4,954
14	Genome-wide Methylation Profiles Reveal Quantitative Views of Human Aging Rates Gregory Hannum, Justin Guinney, Ling Zhao et al. · Molecular Cell Open access	21 Nov 2012	4,654
15	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
16	A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD Alan Edward Renton et al. · Neuron Open access	22 Sep 2011	4,545
17	Accurate whole human genome sequencing using reversible terminator chemistry David Bentley et al. · Nature Open access194 authors	Nov 2008	3,809
18	Predicting Splicing from Primary Sequence with Deep Learning Kishore Jaganathan, Sofia Kyriazopoulou Panagiotopoulou, Jeremy F. McRae et al. · Cell Open access	2019	3,073
19	Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications Xiaoyu Chen, Ole B. Schulz-Trieglaff, Richard J. Shaw et al. · Bioinformatics Open access	8 Dec 2015	2,508
20	Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program Daniel Taliun et al. · Nature Open access427 authors	10 Feb 2021	2,381
21	Shotgun bisulphite sequencing of the Arabidopsis genome reveals DNA methylation patterning Shawn J. Cokus, Suhua Feng, Xiaoyu Zhang et al. · Nature Open access	17 Feb 2008	2,350
22	Rate of de novo mutations and the importance of father’s age to disease risk Augustine Kong et al. · Nature Open access	Aug 2012	2,298
23	Analysis of Circulating Tumor DNA to Monitor Metastatic Breast Cancer Sarah‐Jane Dawson, Dana W.Y. Tsui, Muhammed Murtaza et al. · New England Journal of Medicine Open access	13 Mar 2013	2,250
24	The MicroArray Quality Control (MAQC) project shows inter- and intraplatform reproducibility of gene expression measurements Leming M. Shi et al. · Nature Biotechnology Open access138 authors	Sep 2006	2,178
25	Analysis of shared heritability in common disorders of the brain Verneri Anttila et al. · Science Open access577 authors	21 Jun 2018	2,056
26	Genome-wide association study identifies five new schizophrenia loci Stephan Ripke et al. · Nature Genetics Open access196 authors	18 Sep 2011	1,966
27	Characterization of polyploid wheat genomic diversity using a high‐density 90 000 single nucleotide polymorphism array Shichen Wang et al. · Plant Biotechnology Journal Open access	20 Mar 2014	1,924
28	The somatic mutation profiles of 2,433 breast cancers refine their genomic and transcriptomic landscapes Bernard Pereira et al. · Nature Communications Open access	10 May 2016	1,834
29	Strelka2: fast and accurate calling of germline and somatic variants Sangtae Kim, Konrad Scheffler, Aaron L. Halpern et al. · Nature Methods	11 Jul 2018	1,823
30	Strelka: accurate somatic small-variant calling from sequenced tumor–normal sample pairs Christopher T. Saunders, Wendy S.W. Wong, Sajani Swamy et al. · Bioinformatics Open access	10 May 2012	1,815
31	High density DNA methylation array with single CpG site resolution Marina V. Bibikova, Bret Barnes, Chan Tsan et al. · Genomics Open access	3 Aug 2011	1,807
32	The Simons Genome Diversity Project: 300 genomes from 142 diverse populations Swapan Mallick et al. · Nature Open access	20 Sep 2016	1,804
33	A comprehensive catalogue of somatic mutations from a human cancer genome Erin Pleasance et al. · Nature Open access	16 Dec 2009	1,746
34	Full-length mRNA-Seq from single-cell levels of RNA and individual circulating tumor cells Daniel Ramsköld, Shujun J. Luo, Yu-Chieh Wang et al. · Nature Biotechnology Open access	22 Jul 2012	1,691
35	Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA Muhammed Murtaza, Sarah‐Jane Dawson, Dana W.Y. Tsui et al. · Nature	5 Apr 2013	1,623
36	Comprehensive single-cell transcriptional profiling of a multicellular organism Junyue Cao, Jonathan S. Packer, Vijay Ramani et al. · Science Open access	17 Aug 2017	1,603
37	Ancient human genomes suggest three ancestral populations for present-day Europeans Iosif Lazaridis et al. · Nature Open access120 authors	Sep 2014	1,497
38	Multiplex single-cell profiling of chromatin accessibility by combinatorial cellular indexing Darren A. Cusanovich, Riza M. Daza, Andrew Adey et al. · Science Open access	7 May 2015	1,410
39	Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants Paul Robert Burton et al. · Nature Genetics Open access215 authors	21 Oct 2007	1,386
40	Metagenomic Discovery of Biomass-Degrading Genes and Genomes from Cow Rumen Matthias Hess, Alexander Sczyrba, Rob S Egan et al. · Science	27 Jan 2011	1,367
41	Noninvasive Identification and Monitoring of Cancer Mutations by Targeted Deep Sequencing of Plasma DNA Tim Forshew, Muhammed Murtaza, Christine Parkinson et al. · Science Translational Medicine	30 May 2012	1,333
42	High-throughput sequencing of DNA G-quadruplex structures in the human genome Vicki S. Chambers, Giovanni Marsico, Jonathan M. Boutell et al. · Nature Biotechnology	20 Jul 2015	1,295
43	High-definition spatial transcriptomics for in situ tissue profiling Sanja Vicković, Gökçen Eraslan, Fredrik Salmén et al. · Nature Methods Open access	9 Sep 2019	1,265
44	Mapping copy number variation by population-scale genome sequencing 1000 Genomes Project et al. · Nature Open access	Feb 2011	1,219
45	The UK10K project identifies rare variants in health and disease Writing group et al. · Nature Open access349 authors	14 Sep 2015	1,195
46	Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects Christian R. Marshall et al. · Nature Genetics Open access263 authors	21 Nov 2016	1,160
47	Mapping and sequencing of structural variation from eight human genomes Jeffrey M. Kidd et al. · Nature Open access	30 Apr 2008	1,157
48	Genetic Properties of the Maize Nested Association Mapping Population Michael D. McMullen et al. · Science	6 Aug 2009	1,134
49	Mapping the human genetic architecture of COVID-19 COVID-19 Host Genetics Initiative et al. · Nature Open access3,896 authors	8 Jul 2021	1,130
50	Neuronal subtypes and diversity revealed by single-nucleus RNA sequencing of the human brain Blue B. Lake et al. · Science Open access	24 Jun 2016	1,105

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.