Polygenic [risk] scores (PGS) can enhance prediction and understanding of common diseases and traits. However, the reproducibility of PGS and their subsequent applications in biological and clinical research have been hindered by several factors, including: inadequate and incomplete reporting of PGS development, heterogeneity in evaluation techniques, and inconsistent access to, and distribution of, the information necessary to calculate the scores themselves. To address this we present the PGS Catalog (www.PGSCatalog.org), an open resource for polygenic scores. The PGS Catalog currently contains 192 published PGS from 78 publications for 86 diverse traits, including diabetes, cardiovascular diseases, neurological disorders, cancers, as well as traits like BMI and blood lipids. Each PGS is annotated with metadata required for reproducibility as well as accurate application in independent studies. Using the PGS Catalog, we demonstrate that multiple PGS can be systematically evaluated to generate comparable performance metrics. The PGS Catalog has capabilities for user deposition, expert curation and programmatic access, thus providing the community with an open platform for polygenic score research and translation.

中文翻译：

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多基因评分目录：用于可重复性和系统评估的开放式数据库

多基因[风险]评分（PGS）可以增强对常见疾病和特征的预测和理解。但是，PGS的可再现性及其在生物学和临床研究中的后续应用受到以下几个因素的阻碍，这些因素包括：PGS发展的报告不充分和不完整，评估技术的异质性以及无法获得必要的信息，以及信息的分发自己计算分数。为了解决这个问题，我们介绍了PGS目录（www.PGSCatalog.org），这是一个多基因评分的开放资源。PGS目录目前包含来自78个出版物的192种已发布的PGS，涉及86种不同特征，包括糖尿病，心血管疾病，神经系统疾病，癌症以及BMI和血脂等特征。每个PGS都标注了可重复性以及在独立研究中的准确应用所需的元数据。使用PGS目录，我们证明可以系统地评估多个PGS，以生成可比较的性能指标。PGS目录具有用户沉积，专家管理和程序访问的功能，从而为社区提供了一个开放平台，供多基因评分研究和翻译。