Projects UK Biobank
Curation of UK Biobank — listings under the Projects tab.
Summary Table
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Genomics
UK Biobank — Array genotyping flagship
PUBMED_LINK
STAGE_PERIOD
2015–2017
DESCRIPTION
Genome-wide array genotyping using UK BiLEVE Axiom and UK Biobank Axiom arrays. First 150k participants released in 2015, remainder (full ~500k) released in July 2017.
URL
TITLE
The UK Biobank resource with deep phenotyping and genomic data
UK Biobank — SAIGE method (binary trait GWAS)
PUBMED_LINK
STAGE_PERIOD
2015–2017
DESCRIPTION
SAIGE method for efficient case-control imbalance control applied to UKB GWAS of >1,400 binary traits.
URL
TITLE
Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies
UK Biobank — fastGWA imputed GWAS
PUBMED_LINK
STAGE_PERIOD
2015–2017
DESCRIPTION
fastGWA mixed-model association analysis of 2,173 UKB imputed traits, providing a resource-efficient tool for biobank-scale GWAS.
URL
TITLE
A resource-efficient tool for mixed model association analysis of large-scale data
UK Biobank — TOPMed imputation reference
PUBMED_LINK
STAGE_PERIOD
2015–2017
DESCRIPTION
TOPMed sequencing reference panel providing improved imputation quality for UKB GWAS across diverse ancestries.
URL
TITLE
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
UK Biobank — Whole-exome sequencing (50k tranche)
PUBMED_LINK
STAGE_PERIOD
2019–2020
DESCRIPTION
First 49,960 WES participants released. Enables rare-coding variant association and gene-based tests.
URL
TITLE
Exome sequencing and characterization of 49,960 individuals in the UK Biobank
UK Biobank — WES full expansion (454k)
PUBMED_LINK
STAGE_PERIOD
2021
DESCRIPTION
WES expanded to ~454k participants, enabling comprehensive rare-variant association studies at biobank scale.
URL
TITLE
Exome sequencing and analysis of 454,787 UK Biobank participants
UK Biobank — Rare variant gene-based collapsing analysis
PUBMED_LINK
STAGE_PERIOD
2021
DESCRIPTION
Gene-based collapsing analysis in 281k participants identified 1,703 gene-phenotype associations. Rare variant contribution to common disease demonstrated.
URL
TITLE
Rare variant contribution to human disease in 281,104 UK Biobank exomes
UK Biobank — WGS full 500k release
PUBMED_LINK
STAGE_PERIOD
2023.11
DESCRIPTION
WGS released for all 500,000 participants — the largest whole-genome sequencing dataset ever released for medical research. Sequencing by deCODE Genetics & Wellcome Sanger Institute.
URL
TITLE
World's biggest set of human genome sequences opens to scientists
UK Biobank — WGS/WES phasing (SHAPEIT5)
PUBMED_LINK
STAGE_PERIOD
2023.11
DESCRIPTION
Accurate rare variant phasing of WGS and WES data using SHAPEIT5, enabling haplotype-based analyses.
URL
TITLE
Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank
UK Biobank — Telomere length GWAS (WGS)
PUBMED_LINK
STAGE_PERIOD
2023.11
DESCRIPTION
Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences, identifying both common and rare variant associations.
URL
TITLE
Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences
UK Biobank — WGS-derived CNV PheWAS
PUBMED_LINK
STAGE_PERIOD
2023.11
DESCRIPTION
Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes, including CNV-pQTL and phenome-wide associations.
URL
TITLE
Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes
UK Biobank — WES-derived CNV analysis
PUBMED_LINK
STAGE_PERIOD
2024
DESCRIPTION
Protein-altering CNV analysis from WES data in 468,570 participants. CNV-pQTL validation and phenome-wide associations covering 41 quantitative traits.
URL
TITLE
Protein-altering variants at copy number-variable regions influence diverse human phenotypes
UK Biobank — Pan-UKB multi-ancestry GWAS
PUBMED_LINK
STAGE_PERIOD
2025
DESCRIPTION
Multi-ancestry GWAS meta-analysis across 7,266 traits in UK Biobank, identifying 14,676 significant loci not found in EUR-only analysis.
URL
TITLE
Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects
Multi-omics & Imaging
UK Biobank — Accelerometer physical activity monitoring
PUBMED_LINK
STAGE_PERIOD
2013–2015
DESCRIPTION
Axivity AX3 tri-axial wrist accelerometers distributed to 100k participants, recording week-long 100Hz acceleration data.
URL
TITLE
Large scale population assessment of physical activity using wrist-worn accelerometers: The UK Biobank study
UK Biobank — Brain MRI protocol
PUBMED_LINK
STAGE_PERIOD
2014–2022
DESCRIPTION
Multi-modal imaging including brain MRI, cardiac MRI, abdominal MRI, whole-body DXA, carotid ultrasound, and resting ECG. Target of 100k participants achieved by 2022.
URL
TITLE
Multimodal population brain imaging in the UK Biobank prospective epidemiological study
UK Biobank — Brain imaging GWAS
PUBMED_LINK
STAGE_PERIOD
2014–2022
DESCRIPTION
GWAS of 3,144 brain imaging phenotypes from 8,428 participants, demonstrating the power of UKB imaging data for genetic discovery.
URL
TITLE
Genome-wide association studies of brain imaging phenotypes in UK Biobank
UK Biobank — NMR metabolomics
PUBMED_LINK
STAGE_PERIOD
2021
DESCRIPTION
Nightingale Health NMR metabolomics assay covering 249 metabolic measures (lipoprotein subclasses, fatty acids, amino acids, inflammation markers) released for ~121k participants.
URL
TITLE
Atlas of plasma NMR biomarkers for health and disease in 118,461 individuals from the UK Biobank
UK Biobank — Olink proteomics flagship pQTL
PUBMED_LINK
STAGE_PERIOD
2023.10
DESCRIPTION
UK Biobank Pharma Proteomics Project (UKB-PPP) released Olink Proximity Extension Assay proteomics for ~53k participants, covering ~2,900 plasma proteins. Flagship pQTL resource for cis/trans protein QTL mapping.
URL
TITLE
Plasma proteomic associations with genetics and health in the UK Biobank
UK Biobank — Proteome PheWAS & MR
PUBMED_LINK
STAGE_PERIOD
2023.10
DESCRIPTION
Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases, using pQTL data from UKB-PPP and other cohorts.
URL
TITLE
Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases
Phenotypes & Health Records
UK Biobank — Online dietary & cognitive questionnaires
STAGE_PERIOD
2011–2015
DESCRIPTION
Web-based dietary questionnaire (176k participants) and online cognitive function tests (120k, including symbol digit substitution and trail making).
URL
UK Biobank — Health records linkage
PUBMED_LINK
STAGE_PERIOD
2012–ongoing
DESCRIPTION
Linkage to hospital episode statistics (England 1996+, Scotland 1997+, Wales 1998+), death registers (2006+), and cancer registers. Repeated in-person assessments for ~20k participants.
URL
TITLE
The UK Biobank resource with deep phenotyping and genomic data
UK Biobank — Mental health questionnaire
PUBMED_LINK
STAGE_PERIOD
2016–2017
DESCRIPTION
137k participants completed online mental health assessment covering subjective well-being, psychotic experiences, self-harm, traumatic events, cannabis and alcohol use (PHQ-9, GAD-7).
URL
TITLE
Mental health in UK Biobank: development, implementation and results from an online questionnaire completed by 157,366 participants
UK Biobank — COVID-19 serology monitoring
STAGE_PERIOD
2020–2021
DESCRIPTION
20,000 volunteers (participants plus children and grandchildren) collected monthly blood samples for SARS-CoV-2 antibody analysis.
URL
Recruitment & Baseline
UK Biobank — Baseline recruitment
PUBMED_LINK
STAGE_PERIOD
2006–2010
DESCRIPTION
Recruitment of UK adults aged 40–69 with touchscreen questionnaire, physical measures (height, weight, BP, grip strength, spirometry, bone density), ECG, and blood/urine sample collection.
URL
TITLE
The UK Biobank resource with deep phenotyping and genomic data
UK Biobank — Blood biochemistry & haematology
PUBMED_LINK
STAGE_PERIOD
2018
DESCRIPTION
Serum biochemistry panel (30+ biomarkers: liver function, renal function, lipids, glucose, HbA1c, etc.) and full blood count (haematology: WBC, RBC, platelets, haemoglobin, etc.) released for all ~500k participants.
URL
TITLE
A generalized linear mixed model association tool for biobank-scale data