Thompson, DJ;
Wells, D;
Selzam, S;
Peneva, I;
Moore, R;
Sharp, K;
Tarran, WA;
Beard, EJ;
Riveros-Mckay, F;
Giner-Delgado, C;
et al.
Thompson, DJ; Wells, D; Selzam, S; Peneva, I; Moore, R; Sharp, K; Tarran, WA; Beard, EJ; Riveros-Mckay, F; Giner-Delgado, C; Palmer, D; Seth, P; Harrison, J; Futema, M; Genomics England Research Consortium; McVean, G; Plagnol, V; Donnelly, P; Weale, ME
(2024)
A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release.
PLoS One, 19 (9).
e0307270.
ISSN 1932-6203
https://doi.org/10.1371/journal.pone.0307270
SGUL Authors: Futema, Marta
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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.
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