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Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks.
- Source :
-
American journal of human genetics [Am J Hum Genet] 2020 Nov 05; Vol. 107 (5), pp. 815-836. Date of Electronic Publication: 2020 Sep 28. - Publication Year :
- 2020
-
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.<br /> (Copyright © 2020 The Author(s). Published by Elsevier Inc. All rights reserved.)
- Subjects :
- Adult
Aged
Female
Genome-Wide Association Study
Humans
Internet
Linkage Disequilibrium
Male
Middle Aged
Neoplasms classification
Neoplasms diagnosis
Neoplasms epidemiology
Phenotype
Quantitative Trait, Heritable
Risk Factors
United Kingdom epidemiology
United States epidemiology
Biological Specimen Banks statistics & numerical data
Genetic Predisposition to Disease
Genome, Human
Genomics methods
Multifactorial Inheritance
Neoplasms genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1537-6605
- Volume :
- 107
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- American journal of human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 32991828
- Full Text :
- https://doi.org/10.1016/j.ajhg.2020.08.025