Disease areas:
  • cancer and other tissue growths
Last updated:
Author(s):
Lars G. Fritsche, Snehal Patil, Lauren J. Beesley, Peter VandeHaar, Maxwell Salvatore, Ying Ma, Robert B. Peng, Daniel Taliun, Xiang Zhou, Bhramar Mukherjee
Publish date:
28 September 2020
Journal:
American Journal of Human Genetics
PubMed ID:
32991828

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.

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We aim to identify novel genetic markers of complex human traits, including a number of psychiatric, ocular, dermatological, and cardiovascular diseases. In particular we hope…

Institution:
University of Michigan, United States of America

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