A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release.
other · Level V
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- Record sourced from PubMed, PMID 39292644.
- Also identified by DOI 10.1371/journal.pone.0307270 and PMC identifier 11410272.
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Abstract
We assess the UK Biobank (UKB) Polygenic Risk Score (PRS) Release, a set of PRSs for 28 diseases and 25 quantitative traits that has been made available on the individuals in UKB, using a unified pipeline for PRS evaluation. We also release a benchmarking software tool to enable like-for-like performance evaluation for different PRSs for the same disease or trait. Extensive benchmarking shows the PRSs in the UKB Release to outperform a broad set of 76 published PRSs. For many of the diseases and traits we also validate the PRS algorithms in a separate cohort (100,000 Genomes Project). The availability of PRSs for 53 traits on the same set of individuals also allows a systematic assessment of their properties, and the increased power of these PRSs increases the evidence for their potential clinical benefit.
Medical subject headings
- Multifactorial Inheritance
- Genetic Predisposition to Disease