Completed Genetics & Molecular Biology Pregnancy, Children & Inherited Conditions

UK Biobank Genetic Analyses Enhancement

Funder MRC (part of UKRI)
Recipient organisation Wellcome Trust
Funding £10.0M
Period Feb 2013 — Jul 2014

In plain English

AI plain-English summary

Over the next 18 months, researchers will measure around 600,000 genetic markers in DNA from each of the 500,000 UK Biobank participants. This matters because most studies of how genes influence disease rely on smaller, less detailed datasets. UK Biobank already holds extensive health records, lifestyle questionnaires, and biochemical measurements from blood and urine samples. But without detailed genetic data, researchers cannot link specific DNA variants to the diseases that develop over time. This project fills that gap by creating a dense genetic map for half a million people. The impact is practical and far-reaching. By combining these genetic measurements with existing health data, scientists will be able to identify which gene variants raise the risk of common diseases such as heart disease, diabetes, or cancer. This could accelerate the development of targeted treatments and preventive strategies. It also makes UK Biobank a uniquely powerful resource for researchers worldwide, reducing the time and cost of future genetic studies. The work is primarily a large-scale infrastructure project—it does not test a specific hypothesis—but it will enable thousands of subsequent studies into the genetic causes of disease.

View original technical description
During the next 18 months, it is intended to measure about 600,000 genetic markers in the DNA extracted from blood samples that have already been collected from each of the 500,000 participants in UK Biobank. When these “genotype” measurements are combined with whole genome sequence data from a few thousand or tens of thousands of UK individuals, it will be possible to “impute” (i.e. estimate) very many more genetic variants in the region of the DNA adjacent to the variants that have been measured. The combination of these detailed genotyping data with the extensive range of known biochemical risk factors that are currently being measured in blood and urine samples from the UK Biobank participants, along with the detailed information from questionnaires and physical measurements conducted at the initial assessment visits and from linkage to health records about the development of disease during long-term follow-up, will make UK Biobank uniquely rich as a resource for researchers from all areas of health to conduct studies of the relevance of genes to disease rapidly and cost-effectively. Hence, these detailed genotype data will facilitate research that harnesses the full power of UK Biobank to help understand the causes of many different diseases.

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Researchers

Rory Collins (Principal Investigator)

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Original classification

Intramural

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