UK Biobank has shared new data from its world’s largest whole genome sequencing project with researchers worldwide for the discovery of new diagnostics, treatments and cures.
The set of sequencing data is the biggest ever seen globally and was curated across five years, with more than 350,000 hours of genome sequencing.
Over the last 15 years, UK Biobank has collected a wealth of data on lifestyle, whole body imaging scans, health information and proteins found in the blood.
Over £200m has been invested into the project by Wellcome, UK Research and Innovation, along with four biopharmaceutical companies: Amgen, AstraZeneca, GSK and Johnson & Johnson.
In return, UK Biobank will provide nine months of exclusive data access to industry members of the consortium.
The charity recruited 500,000 volunteers to create health data to be used by researchers across the world in academic, commercial, government and charitable settings to drive scientific discoveries to improve human health.
The DNA sequencing was conducted by Amgen’s subsidiary, deCODE Genetics, and the Wellcome Sanger Institute, utilising NovaSeq technology and deCODE’s additional informatics processing support.
The whole genome sequencing data could lead to the discovery of disease-causing non-coding genetic variants and could accelerate precision medicine and the understanding of the biological underpinnings of diseases such as Parkinson’s, Alzheimer’s and autoimmune diseases.
The data is available on the UK Biobank’s secure, cloud-based Research Analysis Platform, which is hosted on Amazon Web Services in the London region and enabled by DNAnexus.
Following its completion, the industry consortium processed and jointly called the genomes using the DRAGEN pipeline on AWS infrastructure, transforming the data into a single combined genetic dataset by Illumina.
The four pharma companies are set to publicly share their summary statistical analyses that have arisen from the collaboration, including genome-wide association results, providing valuable insights without needing to analyse raw data.
Richard Torbett, chief executive at the Association of the British Pharmaceutical Industry, said: “This milestone opens new doors for collaboration and innovation for researchers around the world [and]… will accelerate our understanding of diseases, helping us to develop more targeted medicines and potentially life-changing treatments for patients.”