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.
Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks.
Cancer PRSweb:一个在线存储库,包含主要癌症特征的多基因风险评分及其在两个独立生物样本库中的评估
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作者:Fritsche Lars G, Patil Snehal, Beesley Lauren J, VandeHaar Peter, Salvatore Maxwell, Ma Ying, Peng Robert B, Taliun Daniel, Zhou Xiang, Mukherjee Bhramar
| 期刊: | American Journal of Human Genetics | 影响因子: | 8.100 |
| 时间: | 2020 | 起止号: | 2020 Nov 5; 107(5):815-836 |
| doi: | 10.1016/j.ajhg.2020.08.025 | 研究方向: | 肿瘤 |
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