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
|
PDF
Published Version
Available under License Creative Commons Attribution. Download (3MB) | Preview |
|
![[img]](https://openaccess.sgul.ac.uk/style/images/fileicons/application_vnd.openxmlformats-officedocument.wordprocessingml.document.png) |
Microsoft Word (.docx) (S1 File)
Supplemental Material
Available under License Creative Commons Attribution. Download (30kB) |
|
![[img]](https://openaccess.sgul.ac.uk/style/images/fileicons/application_vnd.ms-excel.png) |
Microsoft Excel (S1 Table)
Supplemental Material
Available under License Creative Commons Attribution. Download (45kB) |
|
|
Microsoft Excel (S2 Table)
Supplemental Material
Available under License Creative Commons Attribution. Download (35kB) |
|
|
Microsoft Excel (S3 Table)
Supplemental Material
Available under License Creative Commons Attribution. Download (197kB) |
|
|
Microsoft Excel (S4 Table)
Supplemental Material
Available under License Creative Commons Attribution. Download (65kB) |
|
|
Microsoft Excel (S5 Table)
Supplemental Material
Available under License Creative Commons Attribution. Download (89kB) |
|
|
Microsoft Excel (S6 Table)
Supplemental Material
Available under License Creative Commons Attribution. Download (86kB) |
|
|
Microsoft Excel (S7 Table)
Supplemental Material
Available under License Creative Commons Attribution. Download (65kB) |
|
|
Microsoft Excel (S8 Table)
Supplemental Material
Available under License Creative Commons Attribution. Download (51kB) |
|
|
Microsoft Excel (S9 Table)
Supplemental Material
Available under License Creative Commons Attribution. Download (26kB) |
|
|
Microsoft Excel (S10 Table)
Supplemental Material
Available under License Creative Commons Attribution. Download (40kB) |
|
|
Microsoft Excel (S11 Table)
Supplemental Material
Available under License Creative Commons Attribution. Download (42kB) |
|
|
Image (TIFF) (S1 Fig)
Supplemental Material
Available under License Creative Commons Attribution. Download (1MB) | Preview |
|
|
Image (TIFF) (S2 Fig)
Supplemental Material
Available under License Creative Commons Attribution. Download (1MB) | Preview |
|
![[img]](https://openaccess.sgul.ac.uk/id/eprint/116834/33/pone.0307270.s015.png)
|
Image (PNG) (S3 Fig)
Supplemental Material
Available under License Creative Commons Attribution. Download (419kB) | Preview |
|
![[img]](https://openaccess.sgul.ac.uk/id/eprint/116834/38/pone.0307270.s016.png)
|
Image (PNG) (S4 Fig)
Supplemental Material
Available under License Creative Commons Attribution. Download (297kB) | Preview |
|
![[img]](https://openaccess.sgul.ac.uk/id/eprint/116834/47/pone.0307270.s017.png)
|
Image (PNG) (S5 Fig)
Supplemental Material
Available under License Creative Commons Attribution. Download (272kB) | Preview |
|
|
Image (TIFF) (S6 Fig)
Supplemental Material
Available under License Creative Commons Attribution. Download (720kB) | Preview |
|
|
PDF (S7 Fig)
Supplemental Material
Available under License Creative Commons Attribution. Download (7kB) | Preview |
|
|
Image (TIFF) (S8 Fig)
Supplemental Material
Available under License Creative Commons Attribution. Download (9MB) | Preview |
|
|
Image (TIFF) (S9 Fig)
Supplemental Material
Available under License Creative Commons Attribution. Download (5MB) | Preview |
|
|
PDF (S10 Fig)
Supplemental Material
Available under License Creative Commons Attribution. Download (9MB) | Preview |
|
|
PDF (S11 Fig)
Supplemental Material
Available under License Creative Commons Attribution. Download (9MB) | Preview |
|
|
PDF (S12 Fig)
Supplemental Material
Available under License Creative Commons Attribution. Download (32kB) | Preview |
|
![[img]](https://openaccess.sgul.ac.uk/id/eprint/116834/87/pone.0307270.s025.png)
|
Image (PNG) (S13 Fig)
Supplemental Material
Available under License Creative Commons Attribution. Download (103kB) | Preview |
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.
| Item Type: | Article | ||||||
|---|---|---|---|---|---|---|---|
| Additional Information: | © 2024 Thompson et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. | ||||||
| Keywords: | Humans, Multifactorial Inheritance, United Kingdom, Genetic Predisposition to Disease, Biological Specimen Banks, Genome-Wide Association Study, Software, Algorithms, Risk Factors, Benchmarking, Genetic Risk Score, UK Biobank, Genomics England Research Consortium, Humans, Genetic Predisposition to Disease, Risk Factors, Multifactorial Inheritance, Algorithms, Software, Biological Specimen Banks, Benchmarking, Genome-Wide Association Study, United Kingdom, Genetic Risk Score, UK Biobank, General Science & Technology | ||||||
| Journal or Publication Title: | PLoS One | ||||||
| ISSN: | 1932-6203 | ||||||
| Language: | eng | ||||||
| Dates: |
|
||||||
| Publisher License: | Creative Commons: Attribution 4.0 | ||||||
| PubMed ID: | 39292644 | ||||||
 |
Go to PubMed abstract | ||||||
| URI: | https://openaccess.sgul.ac.uk/id/eprint/116834 | ||||||
| Publisher's version: | https://doi.org/10.1371/journal.pone.0307270 |
Statistics
Actions (login required)
 |
Edit Item |