| Title: | Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks |
| Journal: | American Journal of Human Genetics |
| Published: | 28 Sep 2020 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/32991828/ |
| DOI: | https://doi.org/10.1016/j.ajhg.2020.08.025 |
| URL: | http://www.cell.com/article/S0002929720303207/pdf |
Publication 7300
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Abstract
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.10 Authors
- Lars G. Fritsche
- Snehal Patil
- Lauren J. Beesley
- Peter VandeHaar
- Maxwell Salvatore
- Ying Ma
- Robert B. Peng
- Daniel Taliun
- Xiang Zhou
- Bhramar Mukherjee
Enabling scientific discoveries that improve human health