A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release

PLoS One. 2024 Sep 18;19(9):e0307270. doi: 10.1371/journal.pone.0307270. eCollection 2024.

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.

MeSH terms

  • Algorithms
  • Benchmarking
  • Biological Specimen Banks
  • Genetic Predisposition to Disease*
  • Genetic Risk Score
  • Genome-Wide Association Study
  • Humans
  • Multifactorial Inheritance*
  • Risk Factors
  • Software
  • UK Biobank
  • United Kingdom

Grants and funding

The author(s) received no specific funding for this work.