Written by A. Hammouda: After five years, more than 350,000 hours of genome sequencing, and over £200 million of investment, UK Biobank is releasing the world’s largest-by-far whole genome resource. In a momentous landmark for medical research, UK Biobank has, on 30 November 2023, unveiled incredible new data from whole genome sequencing of its half a million participants. This is the world’s largest and most comprehensive dataset of its kind, and is available to approved researchers worldwide.
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What is UK Biobank?
The UK Biobank is a large-scale biomedical database and research resource, containing in-depth genetic and health information from half a million UK participants. It is a large long-term biobank study, which is investigating the respective contributions of genetic predisposition and environmental exposure (including nutrition, lifestyle, medications etc.) to the development of disease. It began in 2006. The study is following about 500,000 volunteers in the UK, enrolled at ages from 40 to 69. Initial enrollment took place over four years from 2006, and the volunteers will be followed for at least 30 years thereafter.
This biobank is the world’s most comprehensive source of health data. It is used by researchers across the world, from academic, commercial, government and charitable settings, for scientific discoveries that improve human health. To date, over 30,000 researchers from more than 90 countries have registered to use UK Biobank, with over 9,000 peer-reviewed papers published as a result.
How was this whole genome resource made?
This world-leading whole genome resource has only been possible due to the collaboration between industry, charity, and Government, who have worked together to enable the sequencing of 500,000 genomes.
This project was funded by Wellcome, UKRI (UK Research and Innovation) and four biopharmaceutical companies: Amgen, AstraZeneca, GSK and Johnson & Johnson.
The DNA sequencing was completed by Amgen’s subsidiary, deCODE Genetics, and the Wellcome Sanger Institute, using Illumina NovaSeq technology, and with deCODE providing additional informatics processing support.
This data – and the rest of UK Biobank’s de-identified data – is now globally accessible for approved researchers on the UK Biobank Research Analysis Platform which is hosted on Amazon Web Services (AWS) and enabled by DNAnexus.
Following completion of the sequencing, the industry consortium led efforts to process and joint call the genomes using the DRAGEN pipeline on AWS infrastructure, enabling this vast volume of data to be transformed into a single combined genetic dataset by Illumina.
In return for significant investment, UK Biobank gives nine months’ exclusive data access to industry members of the consortium. The four pharmaceutical companies plan to publicly share their summary statistical analyses arising from the consortium collaboration, including genome-wide association results. This provides the research community with highly valuable insights without the costly and time-consuming burden of analyzing raw data. In this way, commercial companies invest heavily to enhance a ground-breaking health dataset that is then available to approved research across the world.
Benefits of this whole genome resource
The sequencing data can be combined with other data collected by UK Biobank to enable new discoveries and innovations in biomedical research. This is set to drive the discovery of new diagnostics, treatments, and cures and, uniquely, is available to approved researchers worldwide, via a protected database containing only de-identified data.
This abundance of genomic data is unparalleled, but what cements it as a defining moment for the future of healthcare is its use in combination with the existing wealth of data UK Biobank has collected over the past 15 years on lifestyle, whole body imaging scans, health information, and proteins found in the blood. It is a veritable treasure trove for approved scientists undertaking health research, and is expected to have transformative results for diagnoses, treatments, and cures around the globe.
UK Biobank now provides the most detailed picture of human health that exists, equipping researchers with the ultimate toolbox to make previously out-of-reach links and discoveries about disease development possible. This ground-breaking dataset allows scientists to explore how genetics affect levels of proteins, metabolites, and other physiological factors, more closely than ever before, promising to accelerate our understanding of the genetic underpinnings of disease.
This large whole genome resource comes after a series of great leaps made using the vast UK Biobank biomedical database. These leaps include: finding genes associated with protection against obesity and type 2 diabetes, which has the potential to lead to the development of new drugs; identifying individuals at very high genetic risk for diseases such as heart disease, breast cancer and prostate cancer, which may help with screening; and a link between activity and Parkinson’s that can predict the disease up to seven years before diagnosis from smartwatch data, potentially leading to early intervention. The new sequencing data will dramatically enhance the existing data’s potential.
Whole genome sequencing data on this scale, combined with UK Biobank’s existing data and biological samples, will result in extraordinary biomedical innovations, including:
- More targeted drug discovery and development.
- Discovering thousands of disease-causing non-coding genetic variants.
- Accelerating precision medicine.
- Understanding the biological underpinnings of disease.
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