preprintmedRxivJun 16, 2022GREEN OA

UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits

DJDeborah J. ThompsonDWDaniel WellsSSSaskia SelzamIPIliana PenevaRMRachel Moore

Genomics (United Kingdom) · St George's, University of London · +1 more institution

Indexed incrossref

Abstract

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…

Citation impact

265
total citations
FWCI
—
Percentile
—
References
34
Citations per year

Authors

18

Topics & keywords

Topics
Keywords
  • Biobank
  • Benchmarking
  • Computer science
  • Set (abstract data type)
  • Polygenic risk score
  • Trait
  • Medicine
  • Bioinformatics
No related works found for this paper.

Funding