The UK Biobank, a repository for health, genomic, and other biological data, has released the full genomic sequences of all 500,000 British volunteers in its database. Researchers around the world can apply for access to the anonymized data and use it to explore the genetic basis of health and disease.
The World’s Largest Human Genome Dataset
The full genomes, comprising 3 billion letters for each participant in the UK Biobank, were released following the earlier release of the full genomes of 200,000 Biobank participants in 2021. This £200 million ($250 million) effort was funded by the medical research charity Wellcome, the UK government, and several pharmaceutical companies—who, in turn, gained access to the data nine months prior to its wider release.
Rare Variants
When researchers look for associations between genes and diseases or other traits, most of these “hits” appear in non-coding regions of the genome that lack exome sequencing and are only sparsely covered in widely available genomic data. Full genomic sequences also allow researchers to detect very rare mutations, which tend to have a stronger impact on traits compared to common variations included in broadly available genomic data, according to Michael Weedon, a human geneticist at the University of Exeter in the UK. “We hope that rare variants will give us deeper insights into biology,” he said.
Disease Links
The “All of Us” study, funded by the U.S. government, plans to eventually release full genomic and health data for one million or more people in the United States. So far, 250,000 genomes have been released, but it did not start accepting data study applications from non-U.S. researchers until August. Databases like All of Us may also be useful for confirming links discovered using the UK Biobank, according to researchers.
Impact of the Recent Release
The UK Biobank has already contributed to over 9,000 publications, and the true impact of the recent release may not be clear for some time, Collins said. “I think we will be surprised by how much will emerge that we haven’t even conceived of yet.”
References:
Hawkes, G. et al. Preprint at bioRxiv https://doi.org/10.1101/2023.11.19.566520 (2023).
Leave a Reply