ArticleNature2020
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Open access · hybridAbstract read
In one paragraph
Article in Nature, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 373 papers, 6 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
373citing papers in PubMed, 6 pooled it
70.7field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
373 citing papers in PubMed, 6 syntheses or guidelines pooled it, 622 citations in OpenAlex.
- Ferritin and transferrin predict common carotid intima-media thickness in females: a machine-learning informed individual participant data meta-analysis.BMC cardiovascular disorders · 2026Pooled it
- Computationally efficient meta-analysis of gene-based tests using summary statistics in large-scale genetic studies.Nature genetics · 2025Pooled it
- Multi-ancestry sequencing-based genome-wide association study of C-reactive protein in 513,273 genomes.Nature communications · 2025Pooled it
- Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer.Human molecular genetics · 2025Pooled it
- Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases.Nature communications · 2025Pooled it
- Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure.Nature communications · 2023Pooled it
- Genetic Modifiers of ABCA1 Activity Interact with APOE Isoforms to Mediate Alzheimer's Disease Risk.Annals of neurology · 2026Article
- Prevalence and penetrance of heritable retinoblastoma in two adult population cohorts: implications for genomic newborn screening.European journal of human genetics : EJHG · 2026Article
- Analysis of rare coding variants in schizophrenia-associated genes and generalised cognition in the UK Biobank.Molecular psychiatry · 2026Article
- Evolution-guided yeast complementation reveals functional differences in human PSPH variants.FEBS open bio · 2026Article
- Voltage-Gated Sodium Channel NaBiochemical genetics · 2026Article
- Article
- WxS-QC-a quality control pipeline for human germline short-variant Whole-Genome and Whole-Exome cohorts for population-scale analyses.Bioinformatics (Oxford, England) · 2026Article
- Clonal haematopoiesis and risk of incident rheumatoid arthritis: results from the UK Biobank.Clinical and experimental rheumatology · 2026Article
- Rare Coding Variants Reveal Distinct Genetic Architectures Across Multidimensional Sleep Phenotypes.medRxiv : the preprint server for health sciences · 2026Article
- Carrier Frequencies of Medically Actionable Pathogenic Variants in the Russian Population.International journal of molecular sciences · 2026Article
- Loss of Hfe impairs hematopoietic stem and progenitor cell function.Blood. Red cells & iron · 2026Article
- Measuring disease likelihood in genomic ascertainment.American journal of human genetics · 2026Article
- Article
- Integrating common and rare variants improves polygenic risk prediction across diverse populations.Nature communications · 2026Article
313 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Commented on by
Authors and funding
53 authors at 10 institutions in 4 countries.
Cristopher V Van HoutRegeneron Genetics Center, Tarrytown, NY, USA. cristopher.vanhout@regeneron.com.ORCID http://orcid.org/0000-0001-9689-5344
Ioanna TachmazidouGlaxoSmithKline, Stevenage, UK.
Joshua D BackmanRegeneron Genetics Center, Tarrytown, NY, USA.
Joshua D HoffmanGlaxoSmithKline, Collegeville, PA, USA.
Daren LiuRegeneron Genetics Center, Tarrytown, NY, USA.
Ashutosh K PandeyGlaxoSmithKline, Collegeville, PA, USA.
Claudia Gonzaga-JaureguiRegeneron Genetics Center, Tarrytown, NY, USA.
Shareef KhalidRegeneron Genetics Center, Tarrytown, NY, USA.
Bin YeRegeneron Genetics Center, Tarrytown, NY, USA.
Nilanjana BanerjeeRegeneron Genetics Center, Tarrytown, NY, USA.
Alexander H LiRegeneron Genetics Center, Tarrytown, NY, USA.
Colm O'DushlaineRegeneron Genetics Center, Tarrytown, NY, USA.
Anthony MarckettaRegeneron Genetics Center, Tarrytown, NY, USA.
Jeffrey StaplesRegeneron Genetics Center, Tarrytown, NY, USA.
Claudia SchurmannRegeneron Genetics Center, Tarrytown, NY, USA.
Alicia HawesRegeneron Genetics Center, Tarrytown, NY, USA.
Evan MaxwellRegeneron Genetics Center, Tarrytown, NY, USA.
Leland BarnardRegeneron Genetics Center, Tarrytown, NY, USA.
Alexander LopezRegeneron Genetics Center, Tarrytown, NY, USA.
John PennRegeneron Genetics Center, Tarrytown, NY, USA.
Lukas HabeggerRegeneron Genetics Center, Tarrytown, NY, USA.
Andrew L BlumenfeldRegeneron Genetics Center, Tarrytown, NY, USA.
Xiaodong BaiRegeneron Genetics Center, Tarrytown, NY, USA.
Sean O'KeeffeRegeneron Genetics Center, Tarrytown, NY, USA.
Ashish YadavRegeneron Genetics Center, Tarrytown, NY, USA.
Kavita PraveenRegeneron Genetics Center, Tarrytown, NY, USA.
Marcus JonesRegeneron Pharmaceuticals, Tarrytown, NY, USA.
William J SalernoRegeneron Genetics Center, Tarrytown, NY, USA.
Wendy K ChungDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Ida SurakkaUniversity of Michigan, Ann Arbor, MI, USA.
Cristen J WillerUniversity of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0001-5645-4966
Kristian HveemNorwegian University of Science and Technology, Trondheim, Norway.
Joseph B LeaderGeisinger, Dannville, PA, USA.ORCID http://orcid.org/0000-0002-4101-5423
David J CareyGeisinger, Dannville, PA, USA.
David H LedbetterGeisinger, Dannville, PA, USA.ORCID http://orcid.org/0000-0001-8934-4210
Geisinger-Regeneron DiscovEHR Collaboration
Lon CardonGlaxoSmithKline, Stevenage, UK.
George D YancopoulosRegeneron Pharmaceuticals, Tarrytown, NY, USA.
Aris EconomidesRegeneron Pharmaceuticals, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0002-6508-8942
Giovanni CoppolaRegeneron Genetics Center, Tarrytown, NY, USA.
Alan R ShuldinerRegeneron Genetics Center, Tarrytown, NY, USA.
Suganthi BalasubramanianRegeneron Genetics Center, Tarrytown, NY, USA.
Michael CantorRegeneron Genetics Center, Tarrytown, NY, USA.
Regeneron Genetics Center
Matthew R NelsonGlaxoSmithKline, Collegeville, PA, USA.
John WhittakerGlaxoSmithKline, Stevenage, UK.
Jeffrey G ReidRegeneron Genetics Center, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0001-8645-4713
Jonathan MarchiniRegeneron Genetics Center, Tarrytown, NY, USA.
John D OvertonRegeneron Genetics Center, Tarrytown, NY, USA.
Robert A ScottGlaxoSmithKline, Stevenage, UK. robert.a.scott@gsk.com.ORCID http://orcid.org/0000-0003-3634-3016
Gonçalo R AbecasisRegeneron Genetics Center, Tarrytown, NY, USA.
Laura Yerges-ArmstrongGlaxoSmithKline, Collegeville, PA, USA. laura.m.yerges-armstrong@gsk.com.ORCID http://orcid.org/0000-0003-0006-5237
Aris BarasRegeneron Genetics Center, Tarrytown, NY, USA. aris.baras@regeneron.com.ORCID http://orcid.org/0000-0002-6830-3396
Regeneron (United States) · USGeisinger Medical Center · USGlaxoSmithKline (United Kingdom) · GBGlaxoSmithKline (United States) · USUniversity of Michigan · USAstraZeneca (United Kingdom) · GBColumbia University Irving Medical Center · USDeerfield (United States) · USHasso Plattner Institute · DENorwegian University of Science and Technology · NO
Funding
Using genetics to discover mechanisms of myocardial infarctionR01HL109946 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI YUQING Eugene CHEN, Ida Liisa Surakka · 2011 to 2026
$8.9MNHLBI NIH HHS R01 HL109946
Abstract
The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world
Indexed as
Databases, GeneticExome SequencingPhenotypeAgedBone DensityCollagen Type VIDemographyExomeFemaleGenes, BRCA1Genes, BRCA2GenotypeHumansIon ChannelsLoss of Function MutationMaleCol6a1 protein, humanCollagen Type VIIon ChannelsIQGAP2 protein, humanMEPE protein (242-264), humanPeptide FragmentsPIEZO1 protein, humanras GTPase-Activating Proteins
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.