Detailed genetic data on half a million people
This page provides an overview of the different types of genetic data available in UK Biobank. For more detailed information on the genotype array coverage, laboratory processes and quality control checks, visit the genetics section on data showcase.
Genome-wide genotyping was performed on all UK Biobank participants using the UK Biobank Axiom Array. Approximately 850,000 variants were directly measured, with > 90million variants imputed using the Haplotype Reference Consortium and UK10K + 1000 Genomes reference panels.
You can view the full Axiom array SNP list by downloading the csv file*. Alternatively, you can use the Genomic Search facility to find specific genetic loci of interest that are measured on the array. Imputed data using different reference panels are planned to be made available in the future.
Whole exome sequencing
Whole-exome sequencing measures the regions of the genome (about 2%) that are involved in coding for proteins and is particularly suitable for identifying disease-causing and/or rare genetic variants.
Exome sequencing for 50,000 participants has been performed by Regeneron and GlaxoSmithKline. A further consortium (comprising Regeneron, AbbVie, Alnylam Pharmaceuticals, AstraZeneca, Biogen, Pfizer, Takeda and Bristol-Myers Squibb) are undertaking exome sequencing on the remaining 450,000 participants.
Exome Sequencing FAQs
Whole genome sequencing
Whole genome sequencing measures the entire genome and will provide information that will complement and enhance the existing genotyping and exome data. It is the biggest 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.
The Medical Research Council have provided funding to UK Biobank for a pilot project (the Vanguard) to perform whole-genome sequencing on 50,000 participants, which is being undertaken by the Wellcome Sanger Institute, Cambridge.
A consortium of government, industry and charity have come together to fund whole genome sequencing of the remaining 450,000 participants. This project is funded by:
- UK Government’s research and innovation agency, UK Research and Innovation (UKRI), through the Industrial Strategy Challenge Fund
- The Wellcome Trust
- A consortium of industry partners: Amgen, AstraZeneca, GlaxoSmithKline and Johnson & Johnson.
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