300,000 participant exomes now accessible for approved researchers through Research Analysis Platform

28 September 2021 - UK Biobank has today added the next tranche of exome data to its biomedical database, which now includes exome sequencing data on 300,000 volunteer participants. These data will be made available through the new Research Analysis Platform (RAP), also launched today, which allows approved researchers to access and analyse the entire UK Biobank database securely, in the cloud, from anywhere in the world and is designed to accommodate the vast and increasing scale of the resource.

Whole exome sequencing measures the regions of the genome (about 2%) that are involved in coding for proteins. Through exome sequencing researchers can begin to identify disease-causing and/or rare genetic variants, which will support the diagnosis, prevention and treatment of a range of diseases such as diabetes, dementia, cancer, cardiovascular and infectious diseases.

Participant DNA samples have been sequenced at one of the world’s largest and most sophisticated human genetics sequencing centres in the world, the Regeneron Genetics Center (RGC). The data generated will be paired with detailed, de-identified medical and health records within the UK Biobank resource, including enhanced measures such as brain, heart and body imaging, to create an unparalleled resource for linking human genetic variations to human biology and disease.

"UK Biobank has always sought to foster collaboration between leading life sciences companies to support advances in health research. We are delighted to have launched the new Research Analysis Platform and to be sharing this latest tranche of exome sequencing data with approved researchers, which we hope will generate numerous new health insights across the research community in the years ahead."

Mark Effingham, Deputy CEO of UK Biobank

The generation of whole exome sequencing data was made possible through collaboration and funding support from the UK Biobank Exome Sequencing Consortium (UKB-ESC). The consortium comprises of Regeneron Pharmaceuticals, AbbVie, Alnylam Pharmaceuticals, AstraZeneca, Biogen, Bristol Myers Squibb, Pfizer and Takeda. This collaboration builds upon the original sequencing initiative started with Regeneron and GSK who committed to analysing data from the first 50,000 UK Biobank participants. The UKB-ESC then started the process of exome sequencing the remaining 450,000 participants in 2018 as part of one of the industry's most ambitious 'pre-competitive' research efforts. Following a brief exclusivity period these data are bring incorporated back into the database for the global health community to use — in line with the founding principles of UK Biobank.

Exome sequencing data for a further 150,000 participants are expected to be available to approved researchers in late 2021. The new RAP also accommodates the vast amount of data storage needed to store the Whole Genome Sequencing (WGS) of UK Biobank’s 500,000 participants. This WGS is the biggest endeavour of its kind ever undertaken and will transform the way in which scientists study the genetics determinants of a wide range of health outcomes. WGS data for 200,000 participants will be available on the RAP in Q4 2021 with the remainder expected to be made accessible to researchers in early 2023.