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英国生物银行多基因风险评分（PRS）发布的性能和特征的系统评价。

A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release.

机构信息

Genomics plc, Oxford, United Kingdom.

Cardiology Research Centre, Molecular and Clinical Sciences Research Institute, St George's University of London, London, United Kingdom.

出版信息

PLoS One. 2024 Sep 18;19(9):e0307270. doi: 10.1371/journal.pone.0307270. eCollection 2024.

DOI:10.1371/journal.pone.0307270
PMID:39292644
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11410272/
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.

摘要

我们评估了英国生物银行（UKB）多基因风险评分（PRS）发布版，这是一套针对 28 种疾病和 25 种定量特征的 PRS，已经在 UKB 的个体中提供，使用了用于 PRS 评估的统一管道。我们还发布了一个基准测试软件工具，以实现针对同一疾病或特征的不同 PRS 的可比性能评估。广泛的基准测试表明，UKB 发布版中的 PRS 优于广泛的 76 个已发表的 PRS。对于我们在另一个队列（100,000 基因组计划）中验证的许多疾病和特征，我们也验证了 PRS 算法。同一组个体的 53 个特征的 PRS 的可用性也允许对其特性进行系统评估，并且这些 PRS 的更高功效增加了它们具有潜在临床益处的证据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d20/11410272/5e69a051cd38/pone.0307270.g009.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d20/11410272/e39e26d28c60/pone.0307270.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d20/11410272/c8c27a81c0b6/pone.0307270.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d20/11410272/fe13a6140e8c/pone.0307270.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d20/11410272/7064f1e60114/pone.0307270.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d20/11410272/cc2d34e57050/pone.0307270.g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d20/11410272/73812165d317/pone.0307270.g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d20/11410272/c2b565a1e359/pone.0307270.g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d20/11410272/61a03833c0f8/pone.0307270.g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d20/11410272/5e69a051cd38/pone.0307270.g009.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d20/11410272/e39e26d28c60/pone.0307270.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d20/11410272/c8c27a81c0b6/pone.0307270.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d20/11410272/fe13a6140e8c/pone.0307270.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d20/11410272/7064f1e60114/pone.0307270.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d20/11410272/cc2d34e57050/pone.0307270.g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d20/11410272/73812165d317/pone.0307270.g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d20/11410272/c2b565a1e359/pone.0307270.g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d20/11410272/61a03833c0f8/pone.0307270.g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d20/11410272/5e69a051cd38/pone.0307270.g009.jpg

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