PreprintCited by 280Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestockGenomics and Rare Diseases

The DOI matches its Crossref record; 37 of the 41 references it cites were found in a registry or an index.

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

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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.

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  1. 10.1136/bmj.k1687 · DOI
  2. 10.1093/jnci/djw177 · DOI
  3. 10.1101/2021.09.02.21262942 · DOI

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Metadata

Authors
Thompson, D. J., Wells, D., Selzam, S., Peneva, I., Moore, R., Sharp, K., Tarran, W. A., Beard, E. J., 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, M. E.
Affiliations
  • Genomics (United Kingdom) (GB)
  • St George's, University of London (GB)
Corresponding author
Weale, Michael E.
Venue
medRxiv
Publisher
openRxiv
Published
2022-06-16
OpenAlex
W4283067507
Cited by
280
References
41
Citations by year
2026: 47 · 2025: 84 · 2024: 109 · 2023: 32 · 2022: 8
Type
posted content
Language
en
Open access
Licence
cc-by
Locations
medRxiv (acceptedVersion, cc-by)
Funders
Medical Research Council (MC_PC_17228)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords
polygenic risk score, UK Biobank, disease risk prediction, quantitative traits, genetic risk prediction, clinical utility

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