GWIZ

GWIZ is an R package designed to assess the predictive capabilities of biomarkers derived from genome-wide association studies (GWAS). GWAS have identified significant single nucleotide polymorphisms (SNPs) for various diseases and conditions, but their predictive power is not well understood. The package utilizes summary-level GWAS data to generate receiver-operator characteristic (ROC) curves and calculate the area under the ROC curve (AUROC) as a measure of predictive accuracy. G-WIZ was validated using both patient-level SNP data and literature-reported AUROC values, demonstrating less than 3% error in predicting AUROCs.

Using summary GWAS data from GWAS Central, G-WIZ analyzed 569 GWAS studies across 219 conditions, revealing that a few studies had high AUROCs (>0.75), while the average study had an AUROC of 0.55 for multi-SNP risk predictors. The tool's calculations, including ROC curves, AUROCs, and explained heritability, are available in the publicly accessible GWAS-ROCS database (http://gwasrocs.ca).

Topic

GWAS study;DNA polymorphism;Biomarkers;Pathology;Genotype and phenotype

Detail

  • Operation: Collapsing methods;Genotyping;Regression analysis

  • Software interface: Library

  • Language: R

  • License: -

  • Cost: Free

  • Version name: -

  • Credit: Genome Canada, Genome Alberta, the Canadian Institutes of Health Research, the Canada Foundation for Innovation, the Natural Sciences and Engineering Research Council.

  • Input: -

  • Output: -

  • Contact: dwishart@ualberta.ca

  • Collection: -

  • Maturity: -

Publications

  • Assessing the performance of genome-wide association studies for predicting disease risk.
  • Patron J, et al. Assessing the performance of genome-wide association studies for predicting disease risk. Assessing the performance of genome-wide association studies for predicting disease risk. 2019; 14:e0220215. doi: 10.1371/journal.pone.0220215
  • https://doi.org/10.1371/journal.pone.0220215
  • PMID: 31805043
  • PMC: PMC6894795

Download and documentation


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