Whole genome sequencing will ‘transform the research landscape for a wide range of diseases’

UK Biobank announces today a major initiative to sequence the full genomes of 50,000 UK Biobank volunteer 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 6,500 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.

"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, It massively extends the sorts of questions that scientists can ask and the speed at which they will get results. 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."

Professor Sir Rory Collins, UK Biobank Principal Investigator

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.

With the participants’ consent, UK Biobank has linked their data to their health records, such as hospital episodes statistics, cancer and death data, and it is currently linking to GP information. Researchers register with UK Biobank and then apply to use particular data. All information is provided to researchers in such a way as to help prevent the identification of participants (that is, it is “anonymised”).

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