Institute of Genetic Epidemiology, Medical University of Innsbruck, Innsbruck, Austria.
Canada Excellence Research Chair in Genomic Medicine, McGill University, Montreal, Québec, Canada.
Nucleic Acids Res. 2024 Jul 5;52(W1):W70-W77. doi: 10.1093/nar/gkae331.
Polygenic scores (PGS) enable the prediction of genetic predisposition for a wide range of traits and diseases by calculating the weighted sum of allele dosages for genetic variants associated with the trait or disease in question. Present approaches for calculating PGS from genotypes are often inefficient and labor-intensive, limiting transferability into clinical applications. Here, we present 'Imputation Server PGS', an extension of the Michigan Imputation Server designed to automate a standardized calculation of polygenic scores based on imputed genotypes. This extends the widely used Michigan Imputation Server with new functionality, bringing the simplicity and efficiency of modern imputation to the PGS field. The service currently supports over 4489 published polygenic scores from publicly available repositories and provides extensive quality control, including ancestry estimation to report population stratification. An interactive report empowers users to screen and compare thousands of scores in a fast and intuitive way. Imputation Server PGS provides a user-friendly web service, facilitating the application of polygenic scores to a wide range of genetic studies and is freely available at https://imputationserver.sph.umich.edu.
多基因评分(PGS)通过计算与所研究特征或疾病相关的遗传变异的等位基因剂量的加权和,能够预测广泛特征和疾病的遗传易感性。目前,从基因型计算 PGS 的方法通常效率低下且劳动强度大,限制了其在临床应用中的可转移性。在这里,我们提出了“PGS 导入服务器”,这是密歇根导入服务器的扩展,旨在自动化基于导入基因型的多基因评分的标准化计算。这为广泛使用的密歇根导入服务器提供了新功能,为 PGS 领域带来了现代导入的简单性和效率。该服务目前支持来自公共存储库的 4489 多个已发布的多基因评分,并提供广泛的质量控制,包括估计祖先以报告人口分层。交互式报告使用户能够以快速直观的方式筛选和比较数千个评分。PGS 导入服务器提供了一个用户友好的网络服务,方便将多基因评分应用于广泛的遗传研究,可在 https://imputationserver.sph.umich.edu 免费获得。