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Validation and optimisation of genomic prevention tools
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Our research will involve evaluating the performance of polygenic risk scores (PRSs) in the Genomics England cohort, and then optimising these PRSs using additional data. PRSs are a way of combining information from a person’s genome to create a single score that can be used to predict that person’s risk of getting a disease. In the evaluation stage, PRSs that have been constructed using data from outside the Genomics England cohort will be calculated on individuals in the Genomics England cohort, and then compared against their known disease status to evaluate their predictive power. In the optimisation stage, genomewide association statistics will be calculated on some individuals both with and without a given disease in the Genomics England cohort. These statistics, which are aggregated and represent group-level rather than individual-level information, will then be used to improve the predictive power of the PRSs.
