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UK Biobank specifications


Unique identifier OMICS_16506
Name UK Biobank
Restrictions to use None
Community driven No
Data access Browse
User data submission Not allowed
Maintained Yes


  • person_outline Jonathan Marchini
  • person_outline Rory Collins

Publications for UK Biobank

UK Biobank citations


GWAS on family history of Alzheimer’s disease

PMCID: 5959890
PMID: 29777097
DOI: 10.1038/s41398-018-0150-6
call_split See protocol

[…] n calculated based on the adjusted OR and the P-value from the initial GWAS (Supplementary Note ). The ORs and SEs were then carried forward to a SE-weighted meta-analysis in METAL, first to create a UK Biobank parental meta-analysis, and then with the stage 2 summary output from the International Genomics of Alzheimer’s Project (IGAP) study and the stage 1 output for the SNPs that did not contrib […]


Elucidating the genetic architecture of reproductive ageing in the Japanese population

Nat Commun
PMCID: 5958096
PMID: 29773799
DOI: 10.1038/s41467-018-04398-z
call_split See protocol

[…] ta were incorporated using Summary Mendelian Randomization (SMR). We used a subset of 1344 unrelated East Asian individuals (based on principle component analysis and self-reported ancestry) from the UK Biobank study (500 K HRC release) as an LD reference panel for SMR analysis. Analysis was performed using the pre-supplied McRae et al. methylation data and V7 GTEx gene expression data (http://cns […]


Role of obesity in smoking behaviour: Mendelian randomisation study in UK Biobank

PMCID: 5953237
PMID: 29769355
DOI: 10.1136/bmj.k1767

[…] esulting effect estimates in a histogram. Individual SNPs that strongly influence the overall effect estimate would be reflected with a deviating effect estimate. We also repeated the analyses on the UK Biobank sample separately by sex, and tested the between-sex heterogeneity (supplementary methods). […]


Thirty loci identified for heart rate response to exercise and recovery implicate autonomic nervous system

Nat Commun
PMCID: 5955978
PMID: 29769521
DOI: 10.1038/s41467-018-04148-1

[…] ained from BOLT-REML.For ΔHRex and ΔHRex traits we included the following covariates: sex, age, body mass index (BMI), resting HR, resting HR and a binary indicator variable for the genotyping array (UK Biobank versus UK BiLEVE).Although BOLT-LMM software accounted for genetic relatedness within the analysed cohort, individuals across discovery and replication cohorts could be related, making both […]


Genome wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure

Nat Commun
PMCID: 5940788
PMID: 29739929
DOI: 10.1038/s41467-018-04086-y

[…] A total of 152,736 samples belonging to the interim data release of UK Biobank genetic data (May 2015) were genotyped using a combination of two arrays: the UK Biobank Axiom array from Affymetrix (N = 102,754), that was specifically designed for the purpose of genotyp […]


Analysis of predicted loss of function variants in UK Biobank identifies variants protective for disease

Nat Commun
PMCID: 5915445
PMID: 29691411
DOI: 10.1038/s41467-018-03911-8

[…] We aimed to analyse the association of pLOF variants in PDE3B with coronary artery disease in a combined analysis of UK Biobank and the Myocardial Infarction Genetics Consortium (MIGen). Replication was performed in MIGen rather than the CARDIOGRAM Exome consortium as rs150090666 was not included in the exome chip a […]


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UK Biobank institution(s)
Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK; Department of Statistics, University of Oxford, Oxford, UK; Melbourne Integrative Genomics and the Schools of Mathematics and Statistics, and BioSciences, The University of Melbourne, Parkville, VIC, Australia; Murdoch Children’s Research Institute, Parkville, VIC, Australia; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland; Swiss Institute of Bioinformatics, University of Geneva, Geneva, Switzerland; Institute of Genetics and Genomics in Geneva, University of Geneva, Geneva, Switzerland; Illumina Ltd, Chesterford Research Park, Little Chesterford, Essex, UK; Nuffield Department of Clinical Neurosciences, Division of Clinical Neurology, John Radcliffe Hospital, University of Oxford, Oxford, UK; UK Biobank, Adswood, Stockport, Cheshire, UK; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK
UK Biobank funding source(s)
Supported by Wellcome Trust Core Awards 090532/Z/09/Z and 203141/Z/16/Z and grants 095552/Z/11/Z, 100956/Z/13/Z and 100308/Z/12/Z, by European Research Council grant 617306 and by Australian NHMRC Career Development Fellowship 1053756.

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