NDLI: Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks.

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Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks.

Content Provider	Europe PMC
Author	Fritsche, Lars G. Patil, Snehal Beesley, Lauren J. VandeHaar, Peter Salvatore, Maxwell Ma, Ying Peng, Robert B. Taliun, Daniel Zhou, Xiang Mukherjee, Bhramar
Copyright Year	2020
Abstract	SummaryTo 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.
Related Links	https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC7675001&blobtype=pdf
ISSN	00029297
Journal	American Journal of Human Genetics [Am J Hum Genet]
Volume Number	107
DOI	10.1016/j.ajhg.2020.08.025
PubMed Central reference number	PMC7675001
Issue Number	5
PubMed reference number	32991828
e-ISSN	15376605
Language	English
Publisher	Elsevier
Publisher Date	2020-09-28
Access Restriction	Open
Rights License	This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). © 2020 The Author(s)
Subject Keyword	polygenic risk scores genome-wide association studies GWAS PRS phenome-wide association studies PheWAS electronic health records EHR complex traits cancer genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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