UK Biobank has released a vast tranche of genetic data to health researchers around the world, offering an unprecedented resource to enhance understanding of human biology and aid in therapeutic discovery.

© Tim Ainsworth

Exome sequence data of 50,000 UK Biobank participants are the most recent genomic data to be made available to approved researchers. They were generated at the Regeneron Genetics Center through a collaboration between UK Biobank, Regeneron (US) and GSK (UK), and are linked to detailed health records, imaging and other health-related data of UK Biobank’s volunteer participants.

Regeneron is also leading a consortium of biopharma companies (including Abbvie, Alnylam, AstraZeneca, Bristol-Myers Squibb, Biogen, Pfizer and Takeda) to complete exome sequencing of the remaining 450,000 UK Biobank participants by 2020. In addition, GSK has committed a £40 million investment to initiatives, such as UK Biobank, that harness advances in genetic research in the development of new medicines.

Consistent with the founding principles of UK Biobank, this first tranche of exome data has now been incorporated back into the UK Biobank resource for the global health research community to use. It follows a brief exclusive research period for Regeneron and GSK. Additional tranches of data will be released over the next two years. All sequencing and analyses activities are undertaken on a de-identified basis, with the utmost consideration and respect for participant privacy and confidentiality principles.

C0054788 Equipment at UK Biobank, Cheshire © Wellcome Images

This major enhancement to UK Biobank would have been unimaginable when the study began recruiting participants in 2006, and makes it one of the most important studies of population health in the world.

“We believe this is the largest open access resource of exome sequence data linked to robust health records in the world – and this is just the beginning,” said Aris Baras, MD, Senior Vice President and Head of the Regeneron Genetics Center.

The exome makes up one to two percent of a human genome and contains the protein-coding genes. It is this area that scientists believe has most relevance for discovering genetic variants that may inform the discovery and development of new and improved medicines.

The exome sequencing work supports other UK Biobank genetics analyses under way, including whole genome sequencing of 50,000 participants funded by the UK Research and Innovation as part of the Industrial Strategy Challenge Fund.

Many researchers are already using anonymised genotyping data from UK Biobank. This data, released in 2017, only provides a partial picture of the genome but has nevertheless stimulated a lot of research activity.

UK Biobank is an open access resource. It is funded by the MRC, Wellcome, BHF, CRUK, Department of Health, Scottish Government & Welsh Government, and Diabetes UK.

Find out more – come along to UK Biobank’s annual Scientific Conference on Wednesday 19 June 2019 at QEII Conference Centre, Westminster.
• 9.30am arrival for 10am – 6pm conference (including lunch & drinks reception)
• £20 – register here.

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