Most cited papers from Genomics England

Genomics England

What are the most cited papers from Genomics England?

The most cited paper from Genomics England is "Strelka2: fast and accurate calling of germline and somatic variants" (Sangtae Kim, Konrad Scheffler, Aaron L. Halpern et al., 2018), with 1,823 citations. Next come "Genetic mechanisms of critical illness in COVID-19" (1,515) and "Genome-wide association study identifies 74 loci associated with educational attainment" (1,500).

Published TypeFieldAccessAuthorsCitations

Showing 50 of 60 papers. Every paper with more than 361 citations is listed.

Most cited papers, sortable by citations and release date
#	Paper
1	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
2	Genetic mechanisms of critical illness in COVID-19 The GenOMICC Investigators et al. · Nature Open access	11 Dec 2020	1,515
3	Genome-wide association study identifies 74 loci associated with educational attainment Aysu Okbay et al. · Nature Open access256 authors	10 May 2016	1,500
4	ChAMP: updated methylation analysis pipeline for Illumina BeadChips Yuan Tian, Tiffany J. Morris, Amy P. Webster et al. · Bioinformatics Open access	11 Aug 2017	1,241
5	Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli Cayetano Pleguezuelos‐Manzano et al. · Nature Open access101 authors	27 Feb 2020	1,232
6	Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries Mary Furlan Feitosa et al. · PLoS ONE Open access273 authors	18 Jun 2018	1,174
7	Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses LifeLines Cohort Study et al. · Nature Genetics Open access188 authors	18 Apr 2016	1,144
8	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
9	Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci The Profile Study et al. · Nature Genetics Open access192 authors	8 Jun 2018	1,025
10	A selective jumonji H3K27 demethylase inhibitor modulates the proinflammatory macrophage response Laurens Kruidenier et al. · Nature Open access	27 Jul 2012	975
11	A catalog of genetic loci associated with kidney function from analyses of a million individuals Lifelines Cohort Study et al. · Nature Genetics Open access329 authors	31 May 2019	946
12	The trans-ancestral genomic architecture of glycemic traits Jihua Chen et al. · Nature Genetics Open access417 authors	31 May 2021	918
13	The genetic architecture of the human cerebral cortex Katrina L. Grasby et al. · Science Open access362 authors	19 Mar 2020	910
14	Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease Gosia Trynka et al. · Nature Genetics Open access	6 Nov 2011	878
15	The genome of a songbird Wesley C. Warren et al. · Nature Open access	30 Mar 2010	842
16	Reporting guideline for the early-stage clinical evaluation of decision support systems driven by artificial intelligence: DECIDE-AI Baptiste Vasey et al. · Nature Medicine Open access156 authors	May 2022	837
17	An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans Robert A. Scott et al. · Diabetes Open access175 authors	31 May 2017	830
18	The Human Phenotype Ontology in 2017 Sebastian Köhler et al. · Nucleic Acids Research Open access	28 Nov 2016	819
19	Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells Lu Chen et al. · Cell Open access	Nov 2016	793
20	Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources Sebastian Köhler et al. · Nucleic Acids Research Open access	25 Oct 2018	744
21	Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals Aysu Okbay et al. · Nature Genetics Open access300 authors	31 Mar 2022	714
22	Enhanced CAR T cell expansion and prolonged persistence in pediatric patients with ALL treated with a low-affinity CD19 CAR Sara Ghorashian et al. · Nature Medicine Open access	Sep 2019	664
23	Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors Nicole M. Warrington et al. · Nature Genetics Open access208 authors	May 2019	664
24	The Role of Oxidative Stress and Hypoxia in Pancreatic Beta-Cell Dysfunction in Diabetes Mellitus Philipp A. Gerber, Guy A. Rutter · Antioxidants and Redox Signaling Open access	26 May 2016	664
25	Efficacy of ChAdOx1 nCoV-19 (AZD1222) vaccine against SARS-CoV-2 variant of concern 202012/01 (B.1.1.7): an exploratory analysis of a randomised controlled trial Katherine R. W. Emary et al. · The Lancet Open access	30 Mar 2021	652
26	Vitamin D and risk of cause specific death: systematic review and meta-analysis of observational cohort and randomised intervention studies Rajiv Chowdhury, Setor K. Kunutsor, Anna Vitezova et al. · BMJ ReviewOpen access	Apr 2014	642
27	Clinical Genetic Testing for Familial Hypercholesterolemia Amy Curry Sturm et al. · Journal of the American College of Cardiology Open access	30 Jul 2018	624
28	PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels Antonio Rueda Martin et al. · Nature Genetics	Nov 2019	622
29	Copper is required for oncogenic BRAF signalling and tumorigenesis Donita C. Brady, Matthew S. Crowe, Michelle L. Turski et al. · Nature Open access	8 Apr 2014	622
30	Functions of bromodomain-containing proteins and their roles in homeostasis and cancer Takao Fujisawa, P. Filippakopoulos · Nature Reviews Molecular Cell Biology Review	5 Jan 2017	597
31	Preimplantation genetic testing for aneuploidy versus morphology as selection criteria for single frozen-thawed embryo transfer in good-prognosis patients: a multicenter randomized clinical trial Santiago Munné et al. · Fertility and Sterility Open access	21 Sep 2019	592
32	Whole-genome sequencing of patients with rare diseases in a national health system Ernest Turro et al. · Nature Open access512 authors	24 Jun 2020	589
33	Crystallographic and electrophilic fragment screening of the SARS-CoV-2 main protease A. Douangamath et al. · Nature Communications Open access	7 Oct 2020	547
34	Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma Kathryn R. Taylor et al. · Nature Genetics Open access	6 Apr 2014	537
35	T helper 1 immunity requires complement-driven NLRP3 inflammasome activity in CD4 + T cells Giuseppina Arbore et al. · Science Open access	16 Jun 2016	524
36	Combined Single-Cell Functional and Gene Expression Analysis Resolves Heterogeneity within Stem Cell Populations Nicola K. Wilson, David G. Kent, Florian Buettner et al. · Cell stem cell Open access	21 May 2015	494
37	Large-Scale Structural Analysis of the Classical Human Protein Tyrosine Phosphatome A. Barr, E. Ugochukwu, Wen‐Hwa Lee et al. · Cell Open access	2009	492
38	The 100 000 Genomes Project: bringing whole genome sequencing to the NHS Clare Turnbull et al. · BMJ	24 Apr 2018	488
39	Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus Sébastien Jacquemont et al. · Nature Open access181 authors	30 Aug 2011	484
40	Linear Motif Atlas for Phosphorylation-Dependent Signaling Martin L. Miller et al. · Science Signaling Open access	2 Sep 2008	465
41	Data mining in the Life Sciences with Random Forest: a walk in the park or lost in the jungle? Wouter G. Touw, Jumamurat R. Bayjanov, Lex Overmars et al. · Briefings in Bioinformatics Open access	10 Jul 2012	464
42	A genome-wide association meta-analysis identifies new childhood obesity loci Jonathan P Bradfield et al. · Nature Genetics Open access	8 Apr 2012	441
43	Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci Kyle J. Gaulton et al. · Nature Genetics Open access218 authors	9 Nov 2015	426
44	Small-Molecule Inhibition of BRDT for Male Contraception Martin M. Matzuk, Michael R. McKeown, P. Filippakopoulos et al. · Cell Open access	Aug 2012	423
45	ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions Egor Dolzhenko et al. · Bioinformatics Open access	23 May 2019	421
46	SARS-CoV-2 (COVID-19): What Do We Know About Children? A Systematic Review Nisha Mehta, Oliver Tristan Mytton, Edward Mullins et al. · Clinical Infectious Diseases ReviewOpen access	7 May 2020	419
47	Integrating Genomics into Healthcare: A Global Responsibility Zornitza Stark, Lena I. Dolman, Teri A. Manolio et al. · The American Journal of Human Genetics Open access	2019	415
48	MultiPhen: Joint Model of Multiple Phenotypes Can Increase Discovery in GWAS Paul F. O’Reilly, Clive J. Hoggart, Yotsawat Pomyen et al. · PLoS ONE Open access	2 May 2012	414
49	Frontotemporal dementia and its subtypes: a genome-wide association study Raffaele Ferrari et al. · The Lancet Neurology Open access158 authors	18 Jun 2014	410
50	SNP Genotyping: The KASP Assay Chunlin He, John Holme, Jeffrey Anthony · Methods in molecular biology Book chapter	2014	407

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.