Genome sequencing of first 50,000 UK Biobank participants

UK Biobank has announced a major initiative to sequence the full genomes of 50,000 UK Biobank volunteer participants.

Funded by a £30M grant from the MRC, sequencing of the whole genome will be undertaken during 2018 and 2019 by the Wellcome Sanger Institute which is based in Cambridge.

UK Biobank and the MRC are taking advantage of the revolution in genetics analyses that makes large-scale sequencing possible at an ever-quickening pace. With the ultimate goal to sequence all 500,000 UK Biobank participants, the investment will help establish the world’s most detailed whole genome database – and further accelerate research into a wide range of diseases that cause disability and premature death in mid to later life.

Professor Sir Rory Collins, UK Biobank Principal Investigator, said sequenced data was a vital piece of the health jigsaw that scientists had hoped for, but never imagined would come so quickly. “This development is transforming in many ways,” he said. “It massively extends the sorts of questions that scientists can ask and the speed at which they will get results.”

He added: “I am extremely grateful to the MRC and Wellcome for having the long-term vision to fund this important resource and to our participants for having gone out of their way to join UK Biobank a decade or so ago. Their altruism is delivering new findings every day.”

Dr Nathan Richardson, Head of Molecular and Cellular Medicine at the MRC said: “The UK Biobank partnership is the MRC’s largest single commitment to understanding the contribution of genetics, environment and lifestyle in maintaining good health and complements our numerous in-depth research with people affected by specific diseases.   Across almost all areas of health – from bone and joint health to cancer, dementia and heart disease – this programme, supported by the Industrial Strategy Challenge Fund, will help us discover and develop more precise treatments, and in the longer term help us predict and prevent disease.

“Our goal, with the support of our participants, is to ensure that the UK Biobank resource is used for the widest range of health research to bring about advances in our understanding of disease as quickly as possible.”       

Sir John Bell, Regius Professor of Medicine, University of Oxford, said: “The UK Life Sciences Strategy includes a plan to sequence at whole genome level all 500,000 individuals in UK Biobank. There is enormous global interest in this vanguard project. This program should provide a new global standard for human genome sequencing and will greatly improve our ability to define and treat disease.”

Many researchers are already using anonymised genotyping data from UK Biobank. These data, which were released in 2017, only provide a partial picture of the genome but have, nevertheless, stimulated a lot of research activity.

Since then, GSK in the UK and Regeneron in the US have funded the sequencing of the exomes of 50,000 participants. The first data will be made available to all registered UK Biobank researchers by the end of this year. Regeneron and a consortium of seven other companies are now funding exome sequencing of the other 450,000 participants. This work should be completed by the end of 2019, delivering further valuable information to a wide range of researchers very soon afterwards.

The exome constitutes the active genes and accounts for about 2% of the human genome. It is key to producing proteins that build cells and control cell activity. Analysis of the exome may identify targets for new drugs to improve health. However, control of the active genes in the exome is influenced by other parts of each person’s genome. Sequencing the whole genome is more complex than exome sequencing or genotyping, as well as being more expensive. It is, however, key to understanding how protein production is regulated and likely, to provide important information about ways in which to prevent and treat disease.