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.
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. It makes it one of the most important studies of population health in the world. The initiative 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.
Professor Fiona Watt, Executive Chair of the UK Medical Research Council, which has funded UK Biobank since its inception and continues to support enhancement activities, said it was very pleasing to see industry and academia tackling health research together. “UK Biobank was established to do science in new ways. Industry has led the way on this exome sequencing project and the fruits of that work mean UK Biobank can now deliver important genetic data that would otherwise not be available to researchers.”
Professor Sir Rory Collins, UK Biobank’s Principal Investigator, encouraged approved researchers to use the data. “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,” he said.
“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. “There is so much actionable information in this resource that can be utilized by scientific minds around the globe. We are hard at work mining the data for novel findings that will accelerate science, innovative new medicines and improved patient care, and are excited to have others join us in this important quest.”
Tony Wood, SVP, Medicinal Science and Technology, GSK, said: “We strongly support the UK’s life sciences strategy, and this is a great example of what can be achieved by all parts of the sector working together to make sure the UK remains at the cutting-edge of research. Genetics is playing an increasingly important role in research, and by generating and now integrating these exome data, the UK Biobank has some of the richest health and genetics data available for use by the broader scientific community to enhance their understanding and research effort. We expect this will ultimately lead to more scientific break-throughs that can improve health.”
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.
A preprint of a manuscript by researchers at Regeneron and GSK describing their findings from examination of the first 50,000 exomes was also published today. Key findings included novel loss of function associations with large effects on disease risk, including between PIEZO1 and varicose veins, MEPE and bone mineral density and osteoporosis, COL6A1 and ocular traits, and IQGAP2 and GMPR associated with blood cell traits.Researchers can find more details on how to access the UK Biobank resource via their registration webpage.
UK Biobank has also updated a range of other health information on its 500,000 participants. This includes updates of hospital, cancer and death data, and blood biomarkers. New disease-related algorithms are provided such as on chronic obstructive pulmonary disease, kidney disease, dementia and Parkinson’s disease and the stroke and heart attack algorithms have been updated.