癌症 PRSweb：一个具有主要癌症特征多基因风险评分的在线知识库及其在两个独立生物库中的评估。
Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks.
机构信息
Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA; Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA; Center for Precision Health Data Science, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA; University of Michigan Rogel Cancer Center, University of Michigan, Ann Arbor, MI 48109, USA.
Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA; Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA.
出版信息
Am J Hum Genet. 2020 Nov 5;107(5):815-836. doi: 10.1016/j.ajhg.2020.08.025. Epub 2020 Sep 28.
To facilitate scientific collaboration on polygenic risk scores (PRSs) research, we created an extensive PRS online repository for 35 common cancer traits integrating freely available genome-wide association studies (GWASs) summary statistics from three sources: published GWASs, the NHGRI-EBI GWAS Catalog, and UK Biobank-based GWASs. Our framework condenses these summary statistics into PRSs using various approaches such as linkage disequilibrium pruning/p value thresholding (fixed or data-adaptively optimized thresholds) and penalized, genome-wide effect size weighting. We evaluated the PRSs in two biobanks: the Michigan Genomics Initiative (MGI), a longitudinal biorepository effort at Michigan Medicine, and the population-based UK Biobank (UKB). For each PRS construct, we provide measures on predictive performance and discrimination. Besides PRS evaluation, the Cancer-PRSweb platform features construct downloads and phenome-wide PRS association study results (PRS-PheWAS) for predictive PRSs. We expect this integrated platform to accelerate PRS-related cancer research.
为了促进多基因风险评分（PRS）研究的科学合作，我们创建了一个广泛的 PRS 在线存储库，用于整合来自三个来源的 35 种常见癌症特征的自由可用全基因组关联研究（GWAS）汇总统计信息：已发表的 GWAS、NHGRI-EBI GWAS 目录和基于 UK Biobank 的 GWAS。我们的框架使用各种方法（例如连锁不平衡修剪/ p 值阈值（固定或数据自适应优化阈值）和惩罚、全基因组效应大小加权）将这些汇总统计信息压缩为 PRS。我们在两个生物库中评估了 PRS：密歇根基因组倡议（MGI），这是密歇根医学院的一项纵向生物库工作，以及基于人群的英国生物库（UKB）。对于每个 PRS 构建，我们提供了预测性能和区分度的度量。除了 PRS 评估外，Cancer-PRSweb 平台还具有构建下载和表型全基因组 PRS 关联研究结果（PRS-PheWAS），用于预测 PRS。我们期望这个集成平台能够加速与 PRS 相关的癌症研究。
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