450,000 participant exomes made available today for approved researchers through Research Analysis Platform

UK Biobank has today added an additional tranche of exome sequencing data for 150,000 volunteer participants to its research resource. These de-identified data can now be accessed by approved researchers through the Research Analysis Platform, along with the 300,000 exome sequencing data released in September.

Whole exome sequencing measures the regions of the genome (about 2%) that are involved in coding for proteins and is widely considered to be the best technique for identifying disease-causing or rare genetic variants. The addition of this data will support the diagnosis, prevention and treatment of a range of diseases such as diabetes, dementia, cancer, cardiovascular and infectious diseases.

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 is also expected to release whole genome sequencing (WGS) data in late 2021. The WGS is the largest 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. Data will be made available for the first 200,000 participants, with the remainder expected to be made accessible to researchers in early 2023.