{"title":"A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release.","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,,Gil McVean,Vincent Plagnol,Peter Donnelly,Michael E Weale","doi":"10.1371/journal.pone.0307270","DOIUrl":null,"url":null,"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.","PeriodicalId":20189,"journal":{"name":"PLoS ONE","volume":null,"pages":null},"PeriodicalIF":2.9000,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"PLoS ONE","FirstCategoryId":"103","ListUrlMain":"https://doi.org/10.1371/journal.pone.0307270","RegionNum":3,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"MULTIDISCIPLINARY SCIENCES","Score":null,"Total":0}
引用次数: 0
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.
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