Bristol Myers Squibb, Princeton, NJ, USA.
Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Nat Genet. 2021 Jul;53(7):942-948. doi: 10.1038/s41588-021-00885-0. Epub 2021 Jun 28.
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 ~500,000 UKB participants. Here, we describe the early results from ~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 ~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.
英国生物银行外显子组测序联盟（UKB-ESC）是英国生物银行（UKB）与八家生物制药公司之间的公私合作伙伴关系，该联盟将完成所有500,000 名 UKB 参与者的外显子组测序。在这里，我们描述了来自200,000 名 UKB 参与者的早期结果，以及使该项目取得成功的特点。生物制药行业越来越多地利用人类遗传学来提高药物发现的成功率。认识到需要大规模的人类遗传学数据，以及 UKB 的数据访问和贡献条款的独特价值，成立了 UKB-ESC。结果，现在有 200,643 名 UKB 注册参与者的外显子组数据可用。这些数据包括~1000 万个外显子变异——这是一种稀有编码变异的丰富资源，对于药物发现尤其有价值。UKB-ESC 的非竞争合作进一步加强了学术和行业之间的联系，并为团队提供了与更广泛的研究界互动和学习的机会。
