World's largest set of whole genome sequencing data released from UK Biobank

Whole genome sequencing data from 500,000 British volunteers has been released globally by UK Biobank, for scientific research. 

This involves the publication of 300,000 genomes, joining the first 200,000 genomes released in 2021. The project required 350,000 hours of genome sequencing, carried out by deCODE genetics and the Wellcome Sanger Institute, and £200 million investment from Wellcome, UK Research and Innovation (UKRI) and four pharmaceutical companies.

'Scientists are looking at this like Google Maps,' said Professor Sir Rory Collins, principal investigator at UK Biobank, at a press briefing, the Guardian reported. 'When they want to know what are the pathways from lifestyle, environment, genetics to disease, they don't go to Google, they go to UK Biobank.'

So far, 30,000 researchers from over 90 countries have accessed the sequences. UK Biobank also collects data on over 10,000 health variables including diet, sleep and exercise patterns, whole-body imaging and blood tests. This anonymised dataset was released to approved researchers across the world via a protected database on 30 November 2023. It's the world's largest single collection of genome sequencing data.

It is hoped the publication of the data will help researchers to facilitate the development of more targeted drugs, better understand the role of noncoding portions of the genome on disease, better understand the biology of diseases that are currently poorly understood and illuminate reasons behind different responses to treatment across individuals.

Over 9000 peer-reviewed papers have been published using UK Biobank genome sequencing data, to date, the UK Biobank said. Recent findings using UK Biobank data have included the detection of new breast cancer risk genes (see BioNews 1204), the role of genes in premature menopause (see BioNews 1197) and ways to improve prostate cancer screening (see BioNews 1192), among others.

'This really will be game-changing. What are the genetic drivers that predispose some people to be more active than others and some people to sleep better than others?' Professor Aiden Doherty, professor of biomedical informatics at the University of Oxford, told the Guardian. 'I don't have a clue what we'll find, but I'm really excited to find out.'

UK Biobank recently responded to accusations that it had shared anonymised participant data with insurance companies (see BioNews 1216). In October 2023 UK Biobank wrote to GP practices, requesting they share participants' primary care data, as it is held by them, rather than centrally by the NHS. The aim was to acquire additional, detailed healthcare data to enhance the project (see BioNews 1210).