Regeneron and GSK make available new genetic data on 50,000 UK Biobank Participants to research community

Regeneronand UK Biobank have announced that a vast tranche of new human sequencing data isnow availableto health researchers, offering an unprecedented ‘Big Data’ 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 (RGC) through a collaboration between UK Biobank, Regeneron and GlaxoSmithKline (GSK) and are linked to detailedde-identifiedhealth 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.

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.

"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 RGC. "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 we are excited to have others join us in this important quest."

"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," said Tony Wood, Senior Vice President of Medicinal Science and Technology at GSK. "Genetics is playing an increasingly important role in research, and by generating and now integrating these exome data, 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 breakthroughs that can improve health."

The exome makes up the 1-2 percent of a human genome where the actual protein-coding genes are contained. 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 UK Research and Innovation as part of the Industrial Strategy Challenge Fund.

Researchers from Regeneron and GSK also released a preprint of a manuscript describing their findings from examination of the first 50,000 exomes. Key findings included novel loss of function associations with large effects on disease risk, including between PIEZO1 and varicose veins, MEPEand bone mineral density and osteoporosis, COL6A1 and ocular traits, and IQGAP2 and GMPR associated with blood cell traits. The researchers also explored population-based genetic risk for a number of important diseases, such as BRCA1- and BRCA2-associated cancers.

Regeneron and GSK have significant expertise in genomics. The sequencing was performed by the RGC, one of the world's largest human genetics sequencing and research programs. The RGC is currently sequencing at a rate of 500,000 exomes per year, and Regeneron has advanced multiple new targets and development programs based on its genetics discoveries. GSK is also increasingly incorporating the almost daily advances in genetics and genomics into its drug research programs, forming collaborations and working closely with other world-leading organizations.

"UK Biobank was established to do science in new ways, and it is very pleasing to see industry and academia tackling health research together," said Professor Fiona Watt, Executive Chair of the UK Medical Research, which has funded UK Biobank since its inception and continues to support enhancement activities. "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."

"Today's announcement proves the immense value of the UK Biobank and we look forward to seeing many new collaborations between UK Biobank, industry and academia on the back of this new data being released," said Sara Marshall, Head of Clinical Research & Physiological Sciences at the Wellcome Trust, which also funds UK Biobank. "The success of UK Biobank is thanks to the 500,000 people who have generously agreed to have their lives studied for years."

"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," said Professor Sir Rory Collins, UK Biobank's Principal Investigator, who encouraged approved researchers to use the data.

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, infectious disease data (including human immunodeficiency virus, human papillomavirus and chlamydia) and blood biomarkers. New disease-related algorithms are provided on asthma, kidney disease, dementia and Parkinson's disease, and the stroke and heart attack algorithms have been updated

Regeneron with the support of GSK and UK Biobank have announced that a vast tranche of new human sequencing data is now available to health researchers, offering an unprecedented ‘Big Data’ resource to enhance understanding of human biology and aid in therapeutic discovery.

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