| Title: | A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release |
| Journal: | PLOS ONE |
| Published: | 18 Sep 2024 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/39292644/ |
| DOI: | https://doi.org/10.1371/journal.pone.0307270 |
Publication 13470
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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.</p>
12 Keywords
- Algorithms
- Benchmarking
- Biological Specimen Banks
- Genetic Predisposition to Disease
- Genetic Risk Score
- Genome-Wide Association Study
- Humans
- Multifactorial Inheritance
- Risk Factors
- Software
- UK Biobank
- United Kingdom
19 Authors
- Deborah J. Thompson
- Daniel Wells
- Saskia Selzam
- Iliana Peneva
- Rachel Moore
- Kevin Sharp
- William A. Tarran
- Edward J. Beard
- Fernando Riveros-Mckay
- Carla Giner-Delgado
- Duncan Palmer
- Priyanka Seth
- James Harrison
- Marta Futema
- Genomics England Research Consortium
- Gil McVean
- Vincent Plagnol
- Peter Donnelly
- Michael E. Weale
1 Application
| Application ID | Title |
|---|---|
| 9659 | A genetic investigation of pleiotropy using the UK Biobank Data. |
Enabling scientific discoveries that improve human health