UKRI Industrial Strategy Challenge Fund UK BioBank Vanguard Project - Whole Genome Sequencing

Lead Research Organisation: UK Biobank
Department Name: UNLISTED

Abstract

UK Biobank and UKRI are taking advantage of the revolution in genetics analyses that makes large-scale sequencing of the human genome possible at an ever-quickening pace. With the ultimate goal to sequence all 500,000 UK Biobank participants, this investment as part of the Vanguard project will sequence 50,000 participants and 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

Technical Summary

Whole genome sequence characterisation of UK Biobank samples will lead to the identification of variants associated with the >10,000 disease features and traits already captured, thus enabling the improved characterisation of disease risk mechanisms in general and the manner in which regulatory variation can affect gene function in particular. These analyses will provide the components to help understand the contribution of rare, non-coding variation to human biological variation and determine a significant element of human genetics research over the next decade. In particular, these data will be used to address multiple drug discovery and development questions, including target/pathway/biomarker selection, validation, assessment of safety concerns, identification of patient populations with specific underlying genetic drivers of disease and repositioning opportunities.
This research will also facilitate an improved understanding of the selective constraints acting on disruption outside the coding genome and on different types of structural alteration, which will improve the ability to prioritise rare non-coding variants with a large effect on disease risk. There are many other applications expected, such as providing a resource for cataloguing and imputation of rare and complex variants, adding substantial value to existing genotyping array and exome datasets on >5 million research participants around the world.
The Vanguard Sequencing Study will pave the way for whole genome sequencing of the entire UK Biobank cohort (currently about 500,000 participants), as set out in the Life Sciences Industrial Strategy. However, since the commercial and technological landscape may look very different from now over the next few years, as other solutions and partnerships become available, the study will act as a pilot to inform the second phase of whole genome sequencing. Vanguard will act as a stand-alone “pump primer” in this respect, providing the opportunity to access and test the sequencing of 50,000 participant samples, with the sequencing of the remaining 450,000 participant samples being within the scope of the Main Phase procurement.

Publications

10 25 50
 
Description UK Biobank - Whole genome sequencing of 50,000 UKB participants
Amount £30,000,000 (GBP)
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 03/2018 
End 03/2020
 
Description UK Biobank GP linkage 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact UK Biobank event for the General Practice Data for Planing and Research programme (GP linkage). 1,200 attendees
Year(s) Of Engagement Activity 2021
 
Description UK Biobank Scientific Conference 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact The UK Biobank Scientific Symposium included presentations about the successes and future plans of the UK Biobank. It took place on 21 June 2018 in London
Year(s) Of Engagement Activity 2018
 
Description UK Biobank Scientific Conference 2021 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact The UK Biobank Scientific Conference in 2021 had 3,000 participants from the research community, professional practitioners, media, study particiapnts and other partners.
Year(s) Of Engagement Activity 2021
 
Description UK Biobank participant imaging event 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Study participants or study members
Results and Impact UK Biobank for participants of the imaging work
Year(s) Of Engagement Activity 2021