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World’s largest genetic project unveils whole genome sequencing data from half a million participants

By December 8, 2023No Comments

In a momentous landmark for medical research, UK Biobank has unveiled incredible new data from whole genome sequencing of its half a million participants.

This is set to drive the discovery of new diagnostics, treatments and cures. Uniquely, it is also available to approved researchers worldwide, via a protected database containing only de-identified data (for example, name, address, date of birth, name of GP and more stripped out).

This abundance of genomic data is unparalleled. But what cements it as a defining moment for the future of healthcare is its use in combination with the existing wealth of data UK Biobank has collected over the past 15 years, which includes:

  • lifestyle
  • whole body imaging scans
  • health information
  • proteins found in the blood

BIVDA member UK Research and Innovation (UKRI) has supported UK Biobank since its very conception, with the Medical Research Council (MRC) being one of the joint founding funders of the biomedical database.

The pilot study which sequenced the whole genomes of the first 50,000 UK Biobank participants was funded by MRC. The sequencing for the remaining 450,000 participants was completed as part of the Innovate UK led Industrial Strategy Challenge Fund Data to Early Diagnosis and Precision Medicine Challenge.

The new sequencing data will dramatically enhance the existing data’s potential.
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
  • discovering thousands of disease-causing non-coding genetic variants
  • accelerating precision medicine
  • understanding the biological underpinnings of disease

To date, over 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.

Researchers are given the tools and computing power to analyse the de-identified data via UK Biobank’s secure, cloud-based Research Analysis Platform.

This project was funded by Wellcome, UKRI and four biopharmaceutical companies:

  • Amgen
  • AstraZeneca
  • GSK
  • Johnson & Johnson

In return for significant investment, UK Biobank gives nine months’ exclusive data access to industry members of the consortium.

In this way, commercial companies invest heavily to enhance a ground-breaking health dataset that is then available to approved research across the world.

The DNA sequencing was completed by Amgen’s subsidiary, deCODE Genetics, and the Wellcome Sanger Institute, using BIVDA member Illumina’s NovaSeq technology, and with deCODE providing additional informatics processing support.

This new data and the rest of UK Biobank’s de-identified data is now globally accessible for approved researchers on the UK Biobank Research Analysis Platform. The platform is hosted on Amazon Web Services (AWS) in the London region and enabled by DNAnexus.

Dawn