A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score

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 perfor...

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Bibliographic Details
Published in:PloS one 2024-09, Vol.19 (9), p.e0307270
Main Authors: Thompson, Deborah J, Wells, Daniel, Selzam, Saskia, Peneva, Iliana, Moore, Rachel, Sharp, Kevin, Tarran, William A, Beard, Edward J, Riveros-Mckay, Fernando, Giner-Delgado, Carla, Palmer, Duncan, Seth, Priyanka, Harrison, James, Futema, Marta, McVean, Gil, Plagnol, Vincent, Donnelly, Peter, Weale, Michael E
Format: Article
Language:English
Subjects:
Algorithms
Analysis
Benchmarks
Diseases
Evaluation
Genetic aspects
Genomics
Multifactorial traits
Risk assessment
Risk factors
Type 2 diabetes
United Kingdom
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Summary: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.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0307270