PheWAS statistics

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PheWAS specifications


Unique identifier OMICS_00242
Name PheWAS
Alternative name Phenome-wide association study
Software type Package/Module
Interface Command line interface
Restrictions to use None
Operating system Unix/Linux, Mac OS, Windows
Programming languages R
Computer skills Advanced
Version 0.12.1
Stability Stable
dplyr, ggplot2, phewas
Maintained Yes


No version available



  • person_outline PheWAS
  • person_outline Leena Choi

Publications for Phenome-wide association study

PheWAS citations


Phenome wide association study identifies marked increased in burden of comorbidities in African Americans with systemic lupus erythematosus

PMCID: 5894248
PMID: 29636090
DOI: 10.1186/s13075-018-1561-8

[…] discovery tool [–] to provide detailed data on both a patient’s sle disease course and comorbidities. one method to harness the power of the longitudinal, clinical data in the ehr is the phenome-wide association study (phewas). similar to the way a genome-wide association study (gwas) scans across the genome, a phewas scans across diseases in the ehr, using aggregations of billing […]


Defining the complex phenotype of severe systemic loxoscelism using a large electronic health record cohort

PLoS One
PMCID: 5396866
PMID: 28422977
DOI: 10.1371/journal.pone.0174941

[…] demographics, clinical characteristics, laboratory measures, and outcomes of individuals with loxoscelism are described. case and control groups were compared with descriptive statistics and phenome-wide association study (phewas)., during the time period, 57 individuals were identified as having moderate to severe loxoscelism. of these, only 33% had an antecedent spider bite documented. […]


Systems Genetic Validation of the SNP Metabolite Association in Rice Via Metabolite Pathway Based Phenome Wide Association Scans

Front Plant Sci
PMCID: 4661230
PMID: 26640468
DOI: 10.3389/fpls.2015.01027

[…] genotypes and phenotypes (van der sijde et al., )., in the post-gwas era, a large number of new emerging data make the interpretation of previous gwas results a challenge. new methods such as phewas (denny et al., ) and pathway-based analyses have been proposed to alleviate this problem., the emergence of large bodies of electronic medical records (emrs) may help identify gene-disease […]


Phenome wide association study (PheWAS) in EMR linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5 IL13 to Eosinophilic Esophagitis

Front Genet
PMCID: 4235428
PMID: 25477900
DOI: 10.3389/fgene.2014.00401

[…] biomedical research institute, usa, this article was submitted to applied genetic epidemiology, a section of the journal frontiers in genetics., objective: we report the first pediatric specific phenome-wide association study (phewas) using electronic medical records (emrs). given the early success of phewas in adult populations, we investigated the feasibility of this approach in pediatric […]

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PheWAS institution(s)
Department of Biostatistics, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Pharmacology, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA
PheWAS funding source(s)
Supported by the Vanderbilt Faculty Research Scholars Fund, American Heart Association (16FTF30130005), BurroughsWellcome Innovation in Regulatory Science Award (1015006), NIH/NCATS (KL2 TR 000446), NIH/NLM (R01-LM0010685), NIH/NIGMS (R01-GM124109).

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