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
Mo A
(2021)
Stratification of risk of progression to colectomy in ulcerative colitis via measured and predicted gene expression.
in American journal of human genetics
Hernandez Cordero AI
(2019)
Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2.
in American journal of human genetics
Barton AR
(2022)
A spectrum of recessiveness among Mendelian disease variants in UK Biobank.
in American journal of human genetics
Smail C
(2022)
Integration of rare expression outlier-associated variants improves polygenic risk prediction.
in American journal of human genetics
Sun Q
(2022)
MagicalRsq: Machine-learning-based genotype imputation quality calibration.
in American journal of human genetics
Pazokitoroudi A
(2021)
Quantifying the contribution of dominance deviation effects to complex trait variation in biobank-scale data.
in American journal of human genetics
Xiao J
(2022)
Leveraging the local genetic structure for trans-ancestry association mapping.
in American journal of human genetics
Zhao Z
(2022)
The construction of cross-population polygenic risk scores using transfer learning.
in American journal of human genetics
Huang L
(2022)
TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data.
in American journal of human genetics
Sarnowski C
(2019)
Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine Program.
in American journal of human genetics
Seidman DN
(2020)
Rapid, Phase-free Detection of Long Identity-by-Descent Segments Enables Effective Relationship Classification.
in American journal of human genetics
Kachuri L
(2021)
Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.
in American journal of human genetics
Abdellaoui A
(2023)
15 years of GWAS discovery: Realizing the promise.
in American journal of human genetics
Senum SR
(2022)
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
in American journal of human genetics
Song S
(2022)
Leveraging LD eigenvalue regression to improve the estimation of SNP heritability and confounding inflation.
in American journal of human genetics
Mavaddat N
(2019)
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.
in American journal of human genetics
Zhao Z
(2020)
UK Biobank Whole-Exome Sequence Binary Phenome Analysis with Robust Region-Based Rare-Variant Test.
in American journal of human genetics
Reay WR
(2022)
Genetics-informed precision treatment formulation in schizophrenia and bipolar disorder.
in American journal of human genetics
Guerra G
(2022)
The immunogenetics of viral antigen response is associated with subtype-specific glioma risk and survival.
in American journal of human genetics
Kingdom R
(2022)
Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population.
in American journal of human genetics
He Z
(2021)
Genome-wide analysis of common and rare variants via multiple knockoffs at biobank scale, with an application to Alzheimer disease genetics.
in American journal of human genetics
Kingsmore SF
(2022)
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
in American journal of human genetics
Zhou Y
(2020)
A Fast and Simple Method for Detecting Identity-by-Descent Segments in Large-Scale Data.
in American journal of human genetics
Venkataraman GR
(2021)
Bayesian model comparison for rare-variant association studies.
in American journal of human genetics
Alipanahi B
(2021)
Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology.
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 |