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
- UK Biobank (Lead Research Organisation)
- AbbVie Inc (Collaboration)
- AstraZeneca (Collaboration)
- Alnylam Pharmaceuticals (Collaboration)
- Regeneron Pharmaceuticals, Inc. (Collaboration)
- Pfizer Inc (Collaboration)
- Takeda Pharmaceutical Company (Collaboration)
- Bristol-Myers Squibb (Collaboration)
- Biogen Idec (Collaboration)
- GlaxoSmithKline (GSK) (Collaboration)
People |
ORCID iD |
| Rory Collins (Principal Investigator) |
Publications
Xiao J
(2022)
Leveraging the local genetic structure for trans-ancestry association mapping.
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
Liu L
(2021)
Multi-trait transcriptome-wide association studies with probabilistic Mendelian randomization.
in American journal of human genetics
Burch KS
(2022)
Partitioning gene-level contributions to complex-trait heritability by allele frequency identifies disease-relevant genes.
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
Jamieson E
(2020)
Smoking, DNA Methylation, and Lung Function: a Mendelian Randomization Analysis to Investigate Causal Pathways.
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
Yengo L
(2021)
Genomic partitioning of inbreeding depression in humans.
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
Mavaddat N
(2019)
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.
in American journal of human genetics
Momin MM
(2023)
Significance tests for R2 of out-of-sample prediction using polygenic scores.
in American journal of human genetics
Browning BL
(2023)
Statistical phasing of 150,119 sequenced genomes in the UK Biobank.
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
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
Kachuri L
(2021)
Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.
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
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
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
Wells HRR
(2019)
GWAS Identifies 44 Independent Associated Genomic Loci for Self-Reported Adult Hearing Difficulty in UK Biobank.
in American journal of human genetics
Abdellaoui A
(2023)
15 years of GWAS discovery: Realizing the promise.
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
Privé F
(2019)
Making the Most of Clumping and Thresholding for Polygenic Scores.
in American journal of human genetics
Bi W
(2021)
Efficient mixed model approach for large-scale genome-wide association studies of ordinal categorical phenotypes.
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
| 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 | 06/2019 |
| End | 06/2024 |
| Description | UK Biobank - Data Analytics Platform |
| Amount | £20,000,000 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 03/2019 |
| End | 01/2023 |
| 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 | 03/2019 |
| 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 | Biobank Enhancement |
| Organisation | GlaxoSmithKline (GSK) |
| Country | Global |
| Sector | Private |
| PI Contribution | exome sequencing of 50,000 participants |
| Collaborator Contribution | creating vast amounts of genetic data to be used by researchers accessing UKBiobank |
| Impact | exome data |
| Start Year | 2017 |
| Description | Biobank Enhancement |
| Organisation | Regeneron Pharmaceuticals, Inc. |
| Country | United States |
| Sector | Private |
| PI Contribution | exome sequencing of 50,000 participants |
| Collaborator Contribution | creating vast amounts of genetic data to be used by researchers accessing UKBiobank |
| Impact | exome data |
| Start Year | 2017 |
| Description | Genetic enhancement |
| Organisation | AbbVie Inc |
| Country | United States |
| Sector | Private |
| PI Contribution | Partnership with Regeneron and GSK to complete exome sequencing of 450,000 UKBiobank participants |
| Collaborator Contribution | The exome sequence of 50,000 UKBiobank particpants were generated through a partnership between UKB, Regeneron and GSK. Regeneron is leading a consortium of biopharma (listed) to complete exome sequencing of the remaining 450,000 participants by 2020. GSK has committed an additional £40 million investment to initiatives, such as UKB, that harness advances in genetic research in the development of new medicines. |
| Impact | The first tranche of data have been incorporated back into the UKBiobank resource for the global health community to use. |
| Start Year | 2018 |
| Description | Genetic enhancement |
| Organisation | Alnylam Pharmaceuticals |
| Country | United States |
| Sector | Private |
| PI Contribution | Partnership with Regeneron and GSK to complete exome sequencing of 450,000 UKBiobank participants |
| Collaborator Contribution | The exome sequence of 50,000 UKBiobank particpants were generated through a partnership between UKB, Regeneron and GSK. Regeneron is leading a consortium of biopharma (listed) to complete exome sequencing of the remaining 450,000 participants by 2020. GSK has committed an additional £40 million investment to initiatives, such as UKB, that harness advances in genetic research in the development of new medicines. |
| Impact | The first tranche of data have been incorporated back into the UKBiobank resource for the global health community to use. |
| Start Year | 2018 |
| Description | Genetic enhancement |
| Organisation | AstraZeneca |
| Country | United Kingdom |
| Sector | Private |
| PI Contribution | Partnership with Regeneron and GSK to complete exome sequencing of 450,000 UKBiobank participants |
| Collaborator Contribution | The exome sequence of 50,000 UKBiobank particpants were generated through a partnership between UKB, Regeneron and GSK. Regeneron is leading a consortium of biopharma (listed) to complete exome sequencing of the remaining 450,000 participants by 2020. GSK has committed an additional £40 million investment to initiatives, such as UKB, that harness advances in genetic research in the development of new medicines. |
| Impact | The first tranche of data have been incorporated back into the UKBiobank resource for the global health community to use. |
| Start Year | 2018 |
| Description | Genetic enhancement |
| Organisation | Biogen Idec |
| Country | United States |
| Sector | Private |
| PI Contribution | Partnership with Regeneron and GSK to complete exome sequencing of 450,000 UKBiobank participants |
| Collaborator Contribution | The exome sequence of 50,000 UKBiobank particpants were generated through a partnership between UKB, Regeneron and GSK. Regeneron is leading a consortium of biopharma (listed) to complete exome sequencing of the remaining 450,000 participants by 2020. GSK has committed an additional £40 million investment to initiatives, such as UKB, that harness advances in genetic research in the development of new medicines. |
| Impact | The first tranche of data have been incorporated back into the UKBiobank resource for the global health community to use. |
| Start Year | 2018 |
| Description | Genetic enhancement |
| Organisation | Bristol-Myers Squibb |
| Country | United States |
| Sector | Private |
| PI Contribution | Partnership with Regeneron and GSK to complete exome sequencing of 450,000 UKBiobank participants |
| Collaborator Contribution | The exome sequence of 50,000 UKBiobank particpants were generated through a partnership between UKB, Regeneron and GSK. Regeneron is leading a consortium of biopharma (listed) to complete exome sequencing of the remaining 450,000 participants by 2020. GSK has committed an additional £40 million investment to initiatives, such as UKB, that harness advances in genetic research in the development of new medicines. |
| Impact | The first tranche of data have been incorporated back into the UKBiobank resource for the global health community to use. |
| Start Year | 2018 |
| Description | Genetic enhancement |
| Organisation | GlaxoSmithKline (GSK) |
| Country | Global |
| Sector | Private |
| PI Contribution | Partnership with Regeneron and GSK to complete exome sequencing of 450,000 UKBiobank participants |
| Collaborator Contribution | The exome sequence of 50,000 UKBiobank particpants were generated through a partnership between UKB, Regeneron and GSK. Regeneron is leading a consortium of biopharma (listed) to complete exome sequencing of the remaining 450,000 participants by 2020. GSK has committed an additional £40 million investment to initiatives, such as UKB, that harness advances in genetic research in the development of new medicines. |
| Impact | The first tranche of data have been incorporated back into the UKBiobank resource for the global health community to use. |
| Start Year | 2018 |
| Description | Genetic enhancement |
| Organisation | Pfizer Inc |
| Country | United States |
| Sector | Private |
| PI Contribution | Partnership with Regeneron and GSK to complete exome sequencing of 450,000 UKBiobank participants |
| Collaborator Contribution | The exome sequence of 50,000 UKBiobank particpants were generated through a partnership between UKB, Regeneron and GSK. Regeneron is leading a consortium of biopharma (listed) to complete exome sequencing of the remaining 450,000 participants by 2020. GSK has committed an additional £40 million investment to initiatives, such as UKB, that harness advances in genetic research in the development of new medicines. |
| Impact | The first tranche of data have been incorporated back into the UKBiobank resource for the global health community to use. |
| Start Year | 2018 |
| Description | Genetic enhancement |
| Organisation | Regeneron Pharmaceuticals, Inc. |
| Country | United States |
| Sector | Private |
| PI Contribution | Partnership with Regeneron and GSK to complete exome sequencing of 450,000 UKBiobank participants |
| Collaborator Contribution | The exome sequence of 50,000 UKBiobank particpants were generated through a partnership between UKB, Regeneron and GSK. Regeneron is leading a consortium of biopharma (listed) to complete exome sequencing of the remaining 450,000 participants by 2020. GSK has committed an additional £40 million investment to initiatives, such as UKB, that harness advances in genetic research in the development of new medicines. |
| Impact | The first tranche of data have been incorporated back into the UKBiobank resource for the global health community to use. |
| Start Year | 2018 |
| Description | Genetic enhancement |
| Organisation | Takeda Pharmaceutical Company |
| Department | Takeda Pharmaceuticals U.S.A., Inc. (TPUSA) |
| Country | United States |
| Sector | Private |
| PI Contribution | Partnership with Regeneron and GSK to complete exome sequencing of 450,000 UKBiobank participants |
| Collaborator Contribution | The exome sequence of 50,000 UKBiobank particpants were generated through a partnership between UKB, Regeneron and GSK. Regeneron is leading a consortium of biopharma (listed) to complete exome sequencing of the remaining 450,000 participants by 2020. GSK has committed an additional £40 million investment to initiatives, such as UKB, that harness advances in genetic research in the development of new medicines. |
| Impact | The first tranche of data have been incorporated back into the UKBiobank resource for the global health community to use. |
| Start Year | 2018 |
| Description | UK Biobank GP linkage |
| Form Of Engagement Activity | A formal working group, expert panel or dialogue |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Professional Practitioners |
| Results and Impact | UK Biobank event for the General Practice Data for Planing and Research programme (GP linkage). 1,200 attendees |
| Year(s) Of Engagement Activity | 2021 |
| 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 Scientific Conference 2021 |
| Form Of Engagement Activity | A formal working group, expert panel or dialogue |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Professional Practitioners |
| Results and Impact | The UK Biobank Scientific Conference in 2021 had 3,000 participants from the research community, professional practitioners, media, study particiapnts and other partners. |
| Year(s) Of Engagement Activity | 2021 |
| 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 |