UKRI Industrial Strategy Challenge Fund UK BioBank Vanguard Project - Informatics

Lead Research Organisation: UK Biobank

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 life.

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 Informatics Award 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. The Vanguard Informatics Award will enable UK Biobank to undertake Core Informatics, Quality Control and Assurance and provide Data Storage capacity sufficient to support the whole genome sequencing of up to 50,000 UK Biobank participants, with the informatics needed to support the remaining 450,000 participant samples being within the scope of the Main Phase procurement.

Publications

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