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UK Biobank whole-genome sequencing data made available

The UK Biobank has released whole-genome sequencing data on 200,000 participants and made it widely available on the platform – Research Analysis Platform.

The UK Biobank

Established in 2007, the UK Biobank is a large long-term biobank study investigating the contributions of genetic predisposition and environmental exposure to the development of disease. The study follows 500,000 volunteers in the UK, who were enrolled between the ages of 40-69. Since its launch, the researchers have obtained increasing amounts of data on the participants. For example, more recently, some participants agreed to the collection of blood samples to analyse for SARS-CoV-2 antibodies. The global accessibility of the Biobank has been critical in research exploring health and disease. It has also been a major contributor to advancements in scientific discovery and modern medicine.

Release of whole-genome sequencing data

As part of the ongoing developments to the Biobank, researchers have undertaken whole-genome sequencing (WGS) of all 500,000 UK Biobank participants – the most ambitious project of its kind. The project was funded through a public-private partnership involving Amgen, AstraZeneca, GlaxoSmithKline (GSK) and Johnson & Johnson, alongside Wellcome and UK Research and Innovation (UKRI). Sequencing was carried out by deCODE Genetics and the Wellcome Sanger Institute.

The team has now released 200,000 whole genomes which will then be followed up by the release of WGS data for the remaining 300,000 participants in early 2023. The data has been released through an online platform – Research Analysis Platform. This dataset represents the world’s largest single release of WGS data to date.

Impact of this data

Access to this data will allow researchers across the world to investigate around 98% of the genetic code. In turn, this will enable researchers to identify rare non-coding variants that contribute to disease onset and progression. In addition, combining this data with rich clinical and lifestyle data, will equip researchers with the tools to answer questions about why some people develop particular diseases while others do not. The WGS data will also help accelerate drug discovery and development by allowing researchers to uncover new drug targets. Finally, the large-scale nature of the UK Biobank will provide an opportunity to assess patient stratification and propel precision medicine forward.

Professor Sir Rory Collins, Principal Investigator at UK Biobank, said:

“Sequencing at such a large scale and speed would not have been possible without the long-term vision of UKRI and Wellcome, the support of the industry consortium, and the expertise of the sequencing teams. The WGS project will make UK Biobank the most detailed genomics database in the world and by sharing these data with the global research community our aim is to enable breakthroughs in understanding, diagnosis, prevention and treatment strategies for a range of common and life-threatening diseases.”

Image credit: canva

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Biobank / Data / WGS