Document Detail


Using PhenX measures to identify opportunities for cross-study analysis.
MedLine Citation:
PMID:  22415805     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
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
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Publication Detail:
Type:  Journal Article; Research Support, American Recovery and Reinvestment Act; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural     Date:  2012-04-03
Journal Detail:
Title:  Human mutation     Volume:  33     ISSN:  1098-1004     ISO Abbreviation:  Hum. Mutat.     Publication Date:  2012 May 
Date Detail:
Created Date:  2012-04-16     Completed Date:  2012-07-30     Revised Date:  2014-04-16    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  United States    
Other Details:
Languages:  eng     Pagination:  849-57     Citation Subset:  IM    
Copyright Information:
© 2012 Wiley Periodicals, Inc.
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MeSH Terms
Descriptor/Qualifier:
Data Interpretation, Statistical*
Databases, Genetic
Genetic Association Studies
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Medical Informatics
Phenotype*
Software
Terminology as Topic
Grant Support
ID/Acronym/Agency:
U01 HG004597/HG/NHGRI NIH HHS; U01 HG004597-01/HG/NHGRI NIH HHS; U01 HG004597-01-02S6/HG/NHGRI NIH HHS
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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