Using phenx measures to identify opportunities for cross-study analysis

Huaqin Pan, Kimberly A. Tryka, Daniel J. Vreeman, Wayne Huggins, Michael J. Phillips, Jayashri P. Mehta, Jacqueline H. Phillips, Clement J. McDonald, Heather A. Junkins, Erin M. Ramos, Carol M. Hamilton

Research output: Contribution to journalArticlepeer-review

21 Scopus citations


The PhenX Toolkit provides researchers with recommended, well-established, low-burden measures suitable for human subject research. The database of Genotypes and Phenotypes (dbGaP) is the data repository for a variety of studies funded by the National Institutes of Health, including genome-wide association studies. The dbGaP requires that investigators provide a data dictionary of study variables as part of the data submission process. Thus, dbGaP is a unique resource that can help investigators identify studies that share the same or similar variables. As a proof of concept, variables from 16 studies deposited in dbGaP were mapped to PhenX measures. Soon, investigators will be able to search dbGaP using PhenX variable identifiers and find comparable and related variables in these 16 studies. To enhance effective data exchange, PhenX measures, protocols, and variables were modeled in Logical Observation Identifiers Names and Codes (LOINC ®). PhenX domains and measures are also represented in the Cancer Data Standards Registry and Repository (caDSR). Associating PhenX measures with existing standards (LOINC ® and caDSR) and mapping to dbGaP study variables extends the utility of these measures by revealing new opportunities for cross-study analysis.

Original languageEnglish (US)
Pages (from-to)849-857
Number of pages9
JournalHuman Mutation
Issue number5
StatePublished - May 2012


  • Environmental exposure
  • Epidemiologic methods
  • GWAS
  • Phenotype

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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