UK Biobank publishes milestone ‘transformative treasure trove’ of data

The world’s largest single set of sequencing data, completing the “most ambitious” project of its kind, was unveiled today.

The new milestone data comes from whole genome sequencing of half a million participants in the UK Biobank. It could herald the discovery of new diagnostics, treatments and cures for a range of diseases, researchers say.

The publication of the data comes after five years, more than 350,000 hours of genome sequencing and over £200 million of investment.

Professor Sir Rory Collins, principal investigator at UK Biobank, said: “This is a veritable treasure trove for approved scientists undertaking health research, and I expect it to have transformative results for diagnoses, treatments and cures around the globe.”

UK Biobank, a charity that was set up 20 years ago, recruited half a million volunteers to create the world’s most comprehensive source of health data and it is used by researchers globally, providing the world’s the most detailed picture of human health.

Today’s addition of sequencing data comes after a series of leaps made using the UK Biobank biomedical database, including finding genes associated with protection against obesity and type 2 diabetes; identifying individuals at very high genetic risk for diseases such as heart disease, breast cancer and prostate cancer; and a link between activity and Parkinson’s that can predict the disease up to seven years before diagnosis from smartwatch data.

The team says whole genome sequencing data on this scale, combined with UK Biobank’s existing data and biological samples, will result in “extraordinary biomedical innovations”, including more targeted drug discovery and development; the discovery of thousands of disease-causing non-coding genetic variants; acceleration of precision medicine; and understanding the biological underpinnings of disease.

So far, more than 30,000 researchers from more than 90 countries have registered to use UK Biobank, with over 9,000 peer-reviewed papers published as a result.

This project was funded by Wellcome, UK Research and Innovation (UKRI), Amgen, AstraZeneca, GSK and Johnson & Johnson.

In return for the investment, UK Biobank gives nine months’ exclusive data access to industry members of the consortium. The DNA sequencing was completed by Amgen’s subsidiary, deCODE Genetics, and the Wellcome Sanger Institute, using Illumina NovaSeq technology, and with deCODE providing additional informatics processing support.

All of UK Biobank’s de-identified data are now globally accessible for approved researchers on the UK Biobank Research Analysis Platform. It is the first time a globally accessible resource, the computing power and necessary storage required to analyse this size and sort of data, has been made available to researchers.

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