Using PhenX measures to identify opportunities for cross-study analysis.

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.

Human mutation. 2012 May;33(5):849-57.

ISSN 1098-1004

Authors: 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

© 2012 Wiley Periodicals, Inc.

PMID 22415805, NIHMS499878, PMC3780790

Full Text PubMed BibTeX