April 13, 2024

The world’s largest genetic project reveals incredible new data – UKRI

This should drive the discovery of new diagnoses, treatments and cures. Exclusively, it is also available to approved researchers worldwide, via a protected database that contains only anonymized data (e.g. name, address, date of birth, family doctor’s name and more).

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 that UK Biobank has collected over the last 15 years, which includes:

  • Lifestyle
  • full body imaging exams
  • health information
  • proteins found in blood

UK Research and Innovation (UKRI) has supported the UK Biobank since its inception, with the Medical Research Council (MRC) being one of the co-founders of the biomedical database.

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

An important milestone

Professor Dame Ottoline Leyser DBE FRS, Chief Executive of UKRI, who will attend a reception at the House of Lords to celebrate the historic scientific achievement, said:

It is an honor to represent UKRI during this landmark event for science, following our support of the UK Biobank since its inception. Researchers can now apply to access de-identified whole-genome data from half a million participants, along with a rich combination of medical, biochemical, lifestyle and environmental data from the volunteers involved.

Today marks an important milestone in UKRI’s commitment to realizing the potential of genetics for biomedical research, innovation and translation into the clinic.

After five years, more than 350,000 hours of genome sequencing and more than £200 million of investment, UK Biobank is releasing the world’s largest sequencing dataset, completing the most ambitious project of its kind ever undertaken.

A true treasure

Professor Sir Rory Collins FRS FMedSci, UK Biobank Principal Investigator said:

This is a true treasure trove for vetted scientists conducting health research, and I hope it will have transformative results for diagnoses, treatments, and cures around the world.

Revolutionary data for health research

The current addition of sequencing data follows a series of major advances made using the UK Biobank’s vast biomedical database. These jumps include:

Improving the potential of existing data

New sequencing data will dramatically increase the potential of existing data.
Whole genome sequencing data at this scale, combined with existing UK Biobank data and biological samples, will result in extraordinary biomedical innovations, including:

  • more targeted drug discovery and development
  • discovering thousands of disease-causing noncoding genetic variants
  • accelerating precision medicine
  • understand the biological basis of the disease

Democratizing data

To date, over 30,000 researchers from over 90 countries have registered to use the UK Biobank, with over 9,000 peer-reviewed articles published as a result.

Researchers are provided with the tools and computing power to analyze anonymized data through UK Biobank’s secure, cloud-based Research Analytics Platform.

Cheryl Moore, director of research programs at the Wellcome Trust, said:

From sequencing genomes themselves to innovative and secure data storage, the release of this rich dataset marks a significant and impressive moment in scientific research. It really opens the field for understanding the interactions between our genetics, environment and health.

Wellcome funding has supported a new bespoke data platform that will provide approved researchers with the tools they need to analyze the wealth of data. Crucially, this opens up exciting opportunities for early career researchers and those living in low- and middle-income countries, in turn offering enormous potential to unlock new discoveries and improve our understanding of health to improve lives across the world. the world.

The consortium behind this joint venture

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

  • Amgen
  • AstraZeneca
  • GSK
  • Johnson & Johnson

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

In this way, commercial companies invest heavily to improve an innovative health dataset that is then available for approved research around the world.

DNA sequencing was completed by Amgen subsidiary deCODE Genetics and the Wellcome Sanger Institute using Illumina NovaSeq technology, and with deCODE providing additional computing support.

Brilliant minds and cross-sector collaboration

Professor Sir John Bell CH GBE FRS FmedSci added:

UK Life Sciences is going from strength to strength and UK Biobank is leading the way by combining world-leading data, fantastic infrastructure, brilliant minds and cross-sector collaboration.

Other information

This data and the rest of the anonymized UK Biobank data are now accessible globally to approved researchers on the UK Biobank Research Analytics Platform. The platform is hosted on Amazon Web Services (AWS) in the London region and powered by DNAnexus.

This is the first time that a globally accessible resource, the computing power and storage required to analyze this size and type of data have been made available to researchers.

After sequencing was completed, the industry consortium led efforts to jointly process and call the genomes using the DRAGEN pipeline on AWS infrastructure. It allowed this vast volume of data to be transformed into a single set of genetic data combined by Illumina.

These results further enrich the scientific importance of the data, increasing the potential to identify less frequent genetic variants and making them more comparable with other large-scale population health studies.

The four pharmaceutical companies plan to publicly share their summary statistical analyzes resulting from the consortium collaboration, including genome-wide association results. They will provide the research community with highly valuable insights without the expensive and time-consuming burden of raw data analysis.

Top image: Credit: Pgiam, E+ via Getty Images

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