New exome sequencing data available

200,000 participant exomes now accessible for researchers to advance human genetics

UK Biobank has today added exome sequencing data on 150,000 volunteer participants to its database. This addition, made possible through collaboration with the UK Biobank Exome Sequencing Consortium, means there are now 200,000 participant exomes linked to existing detailed genetic and lifestyle data within the database, enabling researchers to generate new health insights to aid the discovery of new treatments.

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. These data, combined with detailed health records and lifestyle data already available on half a million participants in UK Biobank, have created a uniquely rich dataset to gain a greater understanding of human biology and treatments for disease.

Genotyping and imputation data is already available on all half a million UK Biobank participants and measured 800,000 commonly known variants across the genome, in addition to a further 90 million estimated variants that could play a role in health and disease. The addition of whole-exome sequencing data, comprising of detailed measurements of the rarest protein-coding points on the genome that control cell activity, will provide researchers with an even clearer picture of the role of genes in disease prevention and treatment.

"“The large research community that works with UK Biobank data will be delighted with this latest release. These data have been eagerly anticipated because they provide much greater power to identify robust genetic associations with diverse health outcomes, especially with genetic variants that are individually rare in the population. It is this previously understudied class of genetic variation that can have the most profound impact on an individual’s health.”"

Professor Matthew Hurles, Head of Human Genetics at Wellcome Sanger Institute and Chair of the UK Biobank Genetics Working Group

These data follow an earlier release in 2019 through a collaboration with Regeneron and GSK on the first 50,000 exomes sequenced and are accessible to all international researchers who are approved to access UK Biobank data for research in the good of public health.

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. The UKB-ESC began exome sequencing work with 450,000 participants in 2018. Following a brief exclusivity period (i.e., 12-months), these data are being incorporated back into the database for the global health community to use — in line with the founding principles of UK Biobank.

"“We’re delighted to be adding this latest tranche of whole-exome sequencing data to the UK Biobank database. Thanks to this collaboration by the UK Biobank Exome Sequencing Consortium we will eventually have exome data on all 500,000 participants, providing scientific researchers with an even clearer picture of the role that genes play in disease prevention and treatment.”"

Dr Mark Effingham, Deputy CEO at UK Biobank