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Genome sequencing of first 50,000 UK Biobank participants

Funded by a £30M grant from the Medical Research Council (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.

UK Biobank’s participants are already contributing enormously to health research. The resource is built on health information that they have provided for research, and it is now being used with their consent by more than 6500 approved scientists around the world. While it is still early days for UK Biobank, almost 400 peer review papers have so far been published, and the resource grows in value for research with every passing day.

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.”

The Wellcome Sanger Institute is a world leader in genome research, and aims to deliver new insights into human and pathogen biology that change the course of biology and medicine.

Professor Sir Mike Stratton, director of the Wellcome Sanger Institute, said: “We are delighted to partner with UK Biobank by providing whole-genome sequences for 50,000 volunteer participants. In the past 25 years, the scale and scope of the Sanger Institute has grown exponentially, and as a result we have recently celebrated the milestone of sequencing and analysing five petabases (i.e. five thousand trillion base pairs of DNA sequence) of genomic data. Thanks to our world-leading sequencing teams and facilities, we have the ability to deliver large-scale projects such as this one, which is key to transforming research into disease.”

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. We hope in the coming months we will be able to consider thoroughly the range of options open for the main program, including the use of new technologies to enhance the dataset. 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 using UK Biobank.

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.

UK Biobank is funded by the MRC, Wellcome, BHF, CRUK, Department of Health, Scottish Government & Welsh Government, Diabetes UK.