UK Biobank (core renewal)
Lead Research Organisation:
UK Biobank
Department Name: UNLISTED
Abstract
UK Biobank is supported by The Wellcome Trust, The National Institute of Health Research, The Medical Research Council, The British Heart Foundation and Cancer Research UK. The figures presented on this record represent the Medical Research Council funding contribution only with some additional UKRI Infrastructure funds in addition.
UK Biobank is a prospective study of 500,000 men and women aged 40-69 years at the point of recruitment (2006-10). The study has collected extensive phenotypic and genotypic detail about its participants, including data from questionnaires, physical measures, sample assays, accelerometery, imaging, genome-wide genotyping and long-term longitudinal follow-up for a wide range of health-related outcomes. The resource is regularly augmented with additional data and is available to academic or commercial researchers world-wide to use for any type of health-related research that is in the public interest. It has been established primarily for the conduct of prospective studies investigating the relevance of a wide range of exposures to health outcomes that occur during long-term follow-up. The ongoing identification and adjudication of increasing numbers of incident cases of the commoner conditions in the resource will support extensive and powerful research into their determinants and the range of diseases that can be studied reliably will widen as the numbers of incident events of different types increase during follow-up over the next 5-10 year period. As a result, UK Biobank provides researchers from around the world with greater opportunities to better understand early disease stages and their diagnosis, and can support the development of new treatments for diseases of mid-to-later life.
UK Biobank is a prospective study of 500,000 men and women aged 40-69 years at the point of recruitment (2006-10). The study has collected extensive phenotypic and genotypic detail about its participants, including data from questionnaires, physical measures, sample assays, accelerometery, imaging, genome-wide genotyping and long-term longitudinal follow-up for a wide range of health-related outcomes. The resource is regularly augmented with additional data and is available to academic or commercial researchers world-wide to use for any type of health-related research that is in the public interest. It has been established primarily for the conduct of prospective studies investigating the relevance of a wide range of exposures to health outcomes that occur during long-term follow-up. The ongoing identification and adjudication of increasing numbers of incident cases of the commoner conditions in the resource will support extensive and powerful research into their determinants and the range of diseases that can be studied reliably will widen as the numbers of incident events of different types increase during follow-up over the next 5-10 year period. As a result, UK Biobank provides researchers from around the world with greater opportunities to better understand early disease stages and their diagnosis, and can support the development of new treatments for diseases of mid-to-later life.
Technical Summary
The UK Biobank resource has been established primarily for the conduct of prospective studies investigating the relevance of a wide range of exposures to health outcomes that occur during long-term follow-up. There are now sufficient numbers of incident cases of the commoner conditions to support extensive and powerful research into their determinants.
There is regular augmentation of UK Biobank’s capability for effective use as a prospective resource by the widest possible range of researchers. This activity has included: streamlining resource access management systems; imaging assessments; an agile response to the SARS-2 Covid pandemic; ‘omics; whole genome sequencing and turning biological samples into genotypic and biomarker data to make the resource more accessible to researchers studying a wide range of different conditions.
During the next few years, it is intended to develop UK Biobank as a UK national infrastructure and the resource will move to new premises at the University of Manchester where sample throughput will be accelerated with new robotics and freezer systems, making more large scale studies possible. UK Biobank will make increasing amounts of genotype and biomarker data available. It will seek to extend cohort-wide record linkage to primary care health; develop other linkages relevant to health; complete imaging assessments on close to 100,000 participants, including repeat imaging on a subset; develop and implement further enhancements (such as metabolomics) and introduce changes relating to participant involvement and to address equality diversity and inclusion. Communications will be expanded to a wider audience to help ensure that researchers from around the world are well informed about UK Biobank’s enhanced capabilities in order to maximise suitable use of the resource over the next few years.
There is regular augmentation of UK Biobank’s capability for effective use as a prospective resource by the widest possible range of researchers. This activity has included: streamlining resource access management systems; imaging assessments; an agile response to the SARS-2 Covid pandemic; ‘omics; whole genome sequencing and turning biological samples into genotypic and biomarker data to make the resource more accessible to researchers studying a wide range of different conditions.
During the next few years, it is intended to develop UK Biobank as a UK national infrastructure and the resource will move to new premises at the University of Manchester where sample throughput will be accelerated with new robotics and freezer systems, making more large scale studies possible. UK Biobank will make increasing amounts of genotype and biomarker data available. It will seek to extend cohort-wide record linkage to primary care health; develop other linkages relevant to health; complete imaging assessments on close to 100,000 participants, including repeat imaging on a subset; develop and implement further enhancements (such as metabolomics) and introduce changes relating to participant involvement and to address equality diversity and inclusion. Communications will be expanded to a wider audience to help ensure that researchers from around the world are well informed about UK Biobank’s enhanced capabilities in order to maximise suitable use of the resource over the next few years.
Organisations
People |
ORCID iD |
Rory Collins (Principal Investigator) |
Publications
Lehrer S
(2021)
Endometrial Cancer, BRCA1, and BRCA2 in the UK Biobank Cohort.
in American journal of clinical oncology
Celis-Morales CA
(2018)
Associations of Dietary Protein Intake With Fat-Free Mass and Grip Strength: A Cross-Sectional Study in 146,816 UK Biobank Participants.
in American journal of epidemiology
Batty GD
(2022)
Explaining Ethnic Differentials in COVID-19 Mortality: A Cohort Study.
in American journal of epidemiology
Salinas Y
(2021)
Discovery and Mediation Analysis of Cross-Phenotype Associations Between Asthma and Body Mass Index in 12q13.2
in American Journal of Epidemiology
Kim W
(2021)
Genome-Wide Gene-by-Smoking Interaction Study of Chronic Obstructive Pulmonary Disease.
in American journal of epidemiology
Zhang Z
(2023)
Associations of Air Pollution and Genetic Risk With Incident Dementia: A Prospective Cohort Study
in American Journal of Epidemiology
Jiang L
(2021)
A Hierarchical Approach Using Marginal Summary Statistics for Multiple Intermediates in a Mendelian Randomization or Transcriptome Analysis.
in American journal of epidemiology
Meisner A
(2019)
Case-Only Analysis of Gene-Environment Interactions Using Polygenic Risk Scores.
in American journal of epidemiology
Schneider C
(2021)
Mortality in Patients With Genetic and Environmental Risk of Liver Disease
in American Journal of Gastroenterology
Dulaney D
(2022)
Continuing Medical Education Questions: May 2022
in American Journal of Gastroenterology
Sun Y
(2023)
The Contribution of Genetic Risk and Lifestyle Factors in the Development of Adult-Onset Inflammatory Bowel Disease: A Prospective Cohort Study
in American Journal of Gastroenterology
Höglund J
(2021)
Characterization of the human ABO genotypes and their association to common inflammatory and cardiovascular diseases in the UK Biobank.
in American journal of hematology
Didikoglu A
(2020)
Seasonality and season of birth effect in the UK Biobank cohort.
in American journal of human biology : the official journal of the Human Biology Council
Mackey DA
(2023)
Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?
in American journal of human genetics
Bovijn J
(2019)
GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology.
in American journal of human genetics
Sorokin EP
(2022)
Analysis of MRI-derived spleen iron in the UK Biobank identifies genetic variation linked to iron homeostasis and hemolysis.
in American journal of human genetics
Nakka P
(2019)
Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population.
in American journal of human genetics
Chen HH
(2021)
Host genetic effects in pneumonia.
in American journal of human genetics
Harlow CE
(2022)
Identification and single-base gene-editing functional validation of a cis-EPO variant as a genetic predictor for EPO-increasing therapies.
in American journal of human genetics
Tuke M
(2020)
Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates.
in American journal of human genetics
Yengo L
(2021)
Genomic partitioning of inbreeding depression in humans.
in American journal of human genetics
Auwerx C
(2022)
The individual and global impact of copy-number variants on complex human traits.
in American journal of human genetics
Browning BL
(2021)
Fast two-stage phasing of large-scale sequence data.
in American journal of human genetics
Aguirre M
(2019)
Phenome-wide Burden of Copy-Number Variation in the UK Biobank.
in American journal of human genetics
Bi W
(2020)
A Fast and Accurate Method for Genome-Wide Time-to-Event Data Analysis and Its Application to UK Biobank.
in American journal of human genetics
Highland HM
(2022)
Predicted gene expression in ancestrally diverse populations leads to discovery of susceptibility loci for lifestyle and cardiometabolic traits.
in American journal of human genetics
Kichaev G
(2019)
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
in American journal of human genetics
Zamariolli M
(2023)
The impact of 22q11.2 copy-number variants on human traits in the general population.
in American journal of human genetics
Zhou G
(2023)
SDPRX: A statistical method for cross-population prediction of complex traits.
in American journal of human genetics
Yu K
(2022)
Meta-imputation: An efficient method to combine genotype data after imputation with multiple reference panels.
in American journal of human genetics
Ojavee SE
(2022)
Liability-scale heritability estimation for biobank studies of low-prevalence disease.
in American journal of human genetics
Haas ME
(2018)
Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure.
in American journal of human genetics
Null M
(2022)
RAREsim: A simulation method for very rare genetic variants.
in American journal of human genetics
Marderstein AR
(2021)
A polygenic-score-based approach for identification of gene-drug interactions stratifying breast cancer risk.
in American journal of human genetics
Giannuzzi G
(2019)
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.
in American journal of human genetics
Han X
(2021)
Automated AI labeling of optic nerve head enables insights into cross-ancestry glaucoma risk and genetic discovery in >280,000 images from UKB and CLSA.
in American journal of human genetics
Jamieson E
(2020)
Smoking, DNA Methylation, and Lung Function: a Mendelian Randomization Analysis to Investigate Causal Pathways.
in American journal of human genetics
Zuber V
(2022)
Combining evidence from Mendelian randomization and colocalization: Review and comparison of approaches.
in American journal of human genetics
Smith SP
(2022)
Enrichment analyses identify shared associations for 25 quantitative traits in over 600,000 individuals from seven diverse ancestries.
in American journal of human genetics
Nielsen JB
(2018)
Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development.
in American journal of human genetics
Ma Y
(2022)
ExPRSweb: An online repository with polygenic risk scores for common health-related exposures.
in American journal of human genetics
Privé F
(2019)
Making the Most of Clumping and Thresholding for Polygenic Scores.
in American journal of human genetics
DeBoever C
(2020)
Assessing Digital Phenotyping to Enhance Genetic Studies of Human Diseases.
in American journal of human genetics
Duchen D
(2023)
Pathogen exposure misclassification can bias association signals in GWAS of infectious diseases when using population-based common control subjects.
in American journal of human genetics
Vergnano M
(2020)
Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease.
in American journal of human genetics
Wu Y
(2022)
Fast estimation of genetic correlation for biobank-scale data.
in American journal of human genetics
Bi W
(2019)
A Fast and Accurate Method for Genome-wide Scale Phenome-wide G × E Analysis and Its Application to UK Biobank.
in American journal of human genetics
Meisner A
(2020)
Combined Utility of 25 Disease and Risk Factor Polygenic Risk Scores for Stratifying Risk of All-Cause Mortality.
in American journal of human genetics
Wright CF
(2019)
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
in American journal of human genetics
Manousaki D
(2020)
Genome-wide Association Study for Vitamin D Levels Reveals 69 Independent Loci.
in American journal of human genetics
Description | Impact of clinically silent atrial fibrillation on cerebrovascular disease and cognitive decline in the UK Biobank Imaging Cohort |
Amount | £2,474,260 (GBP) |
Funding ID | RG/18/6/33576 |
Organisation | British Heart Foundation (BHF) |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 07/2019 |
End | 06/2024 |
Description | UK Biobank - The Repeat Imaging Project |
Amount | £2,500,000 (GBP) |
Funding ID | R39738/CN039 |
Organisation | MRC Dementias Platform UK |
Sector | Academic/University |
Country | United Kingdom |
Start | 04/2019 |
End | 01/2023 |
Description | UK Biobank - Whole genome sequencing of 50,000 UKB participants |
Amount | £30,000,000 (GBP) |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start | 03/2018 |
End | 03/2020 |
Description | UK Biobank- Expansion of the UKB imaging to a 4th centre and repeat imaging assessment of 10,000 participants |
Amount | £8,500,000 (GBP) |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start | 03/2018 |
End | 12/2022 |
Description | UK Biobank Scientific Conference |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Public/other audiences |
Results and Impact | The UK Biobank Scientific Symposium included presentations about the successes and future plans of the UK Biobank. It took place on 21 June 2018 in London |
Year(s) Of Engagement Activity | 2018 |
Description | UK Biobank participant imaging event |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Study participants or study members |
Results and Impact | UK Biobank for participants of the imaging work |
Year(s) Of Engagement Activity | 2021 |
Description | UKBiobank participant events - 2014 - 2019 |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Study participants or study members |
Results and Impact | UKB Biobank participants regularly attend events aimed at informing them about the work being undertaken with their data. Usually, the events last a few hours and include an overview from the chief scientist and two talks from scientists that have used UKB data. From 2014 - 2020 over 4,000 participants have taken part in events in Edinburgh (4), Manchester (4), Nottingham, Leeds, Cardiff (2), Newcastle (5), Glasgow (2), Bristol (2) and Reading(4). They are often over-subscribed and participants leave these events wishing to seek more information and support he programme in new ways (EG in imaging, genome sequencing) |
Year(s) Of Engagement Activity | 2014,2015,2016,2017,2018,2019 |
URL | http://www.ukbiobank.ac.uk |