New genetic data on 50,000 UK Biobank participants made available to the global health research community

Collaboration between UK Biobank, Regeneron and GSK delivers significant new data and genetic insights. 

A vast tranche of new UK Biobank genetic data becomes available to health researchers today, offering an unprecedented resource to enhance understanding of human biology and aid in therapeutic discovery.

The exome sequence data of 50,000 UK Biobank participants 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. 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.

"We are excited about the possibilities of letting loose the imaginations of scientists from around the world on these large-scale genomic data linked to so much detailed information related to health in the 500,000 UK Biobank participants,"

Professor Sir Rory Collins, UK Biobank’s Principal Investigator

Consistent with the founding principles of UK Biobank, the first tranche of 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 similarly 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.

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. It represents huge leverage of the public and charity investment that has supported UK Biobank up to this point; the costs of such a project would have been prohibitive had UK Biobank had to raise the funding itself.

The exome makes up 1-2 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.