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PheWAS (Phenome-wide association studies) is a tool for genome-wide association studies (GWAS). The method has the potential to identify therapeutic and adverse drug outcomes in electronic health record data.


Phenomics; Genotype and phenotype; GWAS study


  • Operation: Genetic variation analysis
  • Software interface: Library
  • Language: R
  • Operating system: Linux; Mac OS X; Microsoft Windows
  • License: GNU General Public License v3
  • Cost: Free
  • Version name: 0.99.5-3
  • Credit: The Vanderbilt Faculty Research Scholars Fund, American Heart Association, Burroughs-Wellcome Innovation in Regulatory Science Award, NIH-NCATS, NIH-NLM, NIH-NIGMS.
  • Contact: Robert Carroll Robert.Carroll _at_
  • Collection: -


Choi L, Carroll RJ, Beck C, Mosley JD, Roden DM, Denny JC, Van Driest SL "Evaluating statistical approaches to leverage large clinical datasets for uncovering therapeutic and adverse medication effects." Bioinformatics 2018; 34(17):2988-2996
PMID: 29912272
PMCID: PMC6129383

Denny JC, Ritchie MD, Basford MA, Pulley JM, Bastarache L, Brown-Gentry K, Wang D, Masys DR, Roden DM, Crawford DC "PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations." Bioinformatics 2010; 26(9):1205-10
PMID: 20335276
PMCID: PMC2859132

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