PheWAS

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.

Topic

Phenomics;Genotype and phenotype;GWAS study

Detail

  • Operation: Genetic variation analysis

  • Software interface: Library

  • Language: R

  • 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.

  • Input: -

  • Output: -

  • Contact: Robert Carroll Robert.Carroll@vumc.org

  • Collection: -

  • Maturity: -

Publications

  • PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations.
  • Denny JC, et al. PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations. PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations. 2010; 26:1205-10. doi: 10.1093/bioinformatics/btq126
  • https://doi.org/10.1093/bioinformatics/btq126
  • PMID: 20335276
  • PMC: PMC2859132
  • Evaluating statistical approaches to leverage large clinical datasets for uncovering therapeutic and adverse medication effects.
  • Choi L, et al. Evaluating statistical approaches to leverage large clinical datasets for uncovering therapeutic and adverse medication effects. Evaluating statistical approaches to leverage large clinical datasets for uncovering therapeutic and adverse medication effects. 2018; 34:2988-2996. doi: 10.1093/bioinformatics/bty306
  • https://doi.org/10.1093/bioinformatics/bty306
  • PMID: 29912272
  • PMC: PMC6129383

Download and documentation

< Back to DB search