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Approved research

Polygenic Risk Score Knowledge Base

Principal Investigator: Dr John Kauwe
Approved Research ID: 51072
Approval date: July 30th 2019

Lay summary

As DNA sequencing becomes cheaper and more accessible to the general public, individual disease and trait analyses will become more common. One common way to assess the risk that an individual will develop a disease or trait is through a polygenic risk score. A polygenic risk score combines the allelic risk of each variant within an individual and compares that risk to the broader population. Although polygenic risk scores are highly effective and widely used, a centralized database for calculating polygenic risk scores based on published genome-wide association studies is currently unavailable. Our proposal fills a void in polygenic risk score analyses by providing researchers a central location to assess individual risk for disease. We will capitalize on the vast amount of data available in the UK Biobank to provide researchers with a baseline comparison of a healthy European population. We recognize that the UK Biobank is not representative of the UK population, and we will note the volunteer bias on our web resource. We anticipate that the UK Biobank data will still be useful for researchers to compare calculated polygenic risk scores against a healthy cohort. Furthermore, we will conduct other genome-wide association studies using the UK Biobank data to add to a web server. By providing genetic researchers with a central location to analyze disease risk, we anticipate that our tool will facilitate the prediction of genetic risk, aid in developing diagnostic techniques, assist in targeted lifestyle interventions, and provide more information for patient counselling.