PLoS ONEGenetic & Genomic MedicinePeer-reviewed journal article
UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits
Deborah J. ThompsoniD, Daniel WellsiD, Saskia SelzamiD, Iliana Peneva, Rachel MooreiD, Kevin SharpiD, William A. TarraniD, Edward J. BeardiD, Fernando Riveros-MckayiD, Carla Giner-DelgadoiD, Duncan S. PalmeriD, Priyanka SethiD, Jamie HarrisoniD, Marta FutemaiD, Gil McVeaniD, Vincent PlagnoliD, Peter DonnellyiD, Michael E. WealeiD
Abstract
We present and assess the UK Biobank (UKB) Polygenic Risk Score (PRS) Release, a set of PRSs for 28 diseases and 25 quantitative traits being made available on the individuals in UKB. 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 81 published PRSs. For many of the diseases and traits we also validate the PRS algorithms in other cohorts. 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.
- organism: human
- assay: GWAS summary statistics
- research focus: benchmarking
- approach: statistical model
- Citations
- 173
- FWCI
- 45.23
- Field percentile
- top 1%
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