Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank
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DOI：
10.1038/s41588-021-00885-0
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发表时间：
2021-06-28
期刊：
影响因子：
30.8
通讯作者：
Reid, Jeffrey G.
中科院分区：
文献类型：
--
作者：
Szustakowski, Joseph D.;Balasubramanian, Suganthi;Reid, Jeffrey G.
英国生物银行外显子组测序联盟（UKB-ESC）是英国生物银行（UKB）和八家生物制药公司之间的公私合作伙伴关系，将为所有类似的50万名UKB参与者完成外显子组测序。在这里，我们描述了来自大约20万名UKB参与者的早期结果，以及该项目成功的特点。生物制药行业越来越多地使用人类遗传学来提高药物发现的成功率。认识到对大规模人类遗传学数据的需求，以及UKB数据访问和贡献条款的独特价值，UKB-ESC成立了。因此，现在可以获得来自200，643名UKB注册者的外显子组数据。这些数据包括大约1000万个外显子变异，这是一个罕见的编码变异的丰富资源，对药物发现特别有价值。UKB-ESC竞争前合作进一步加强了学术和行业联系，并为团队提供了与更广泛的研究界互动和学习的机会。
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.