Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a private-public partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that will complete the sequencing of exomes for all similar to 500,000 UKB participants. Here, we describe the early results from similar to 200,000 UKB participants and the features of this project that enabled its success. The biopharmaceutical industry has increasingly used human genetics to improve success in drug discovery. Recognizing the need for large-scale human genetics data, as well as the unique value of the data access and contribution terms of the UKB, the UKB-ESC was formed. As a result, exome data from 200,643 UKB enrollees are now available. These data include similar to 10 million exonic variants-a rich resource of rare coding variation that is particularly valuable for drug discovery. The UKB-ESC precompetitive collaboration has further strengthened academic and industry ties and has provided teams with an opportunity to interact with and learn from the wider research community.

Automated summary

The UK Biobank Exome Sequencing Consortium is a successful collaborative project between UK Biobank and biopharmaceutical companies, providing valuable rare coding variation resources for drug discovery. The project has strengthened academic and industry ties and promoted interaction and learning within the wider research community.