The PhenX toolkit: Get the most from your measures

Carol M. Hamilton, Lisa C. Strader, Joseph G. Pratt, Deborah Maiese, Tabitha Hendershot, Richard K. Kwok, Jane A. Hammond, Wayne Huggins, Dean Jackman, Huaqin Pan, Destiney S. Nettles, Terri H. Beaty, Lindsay A. Farrer, Peter Kraft, Mary L. Marazita, Jose M. Ordovas, Carlos N. Pato, Margaret R. Spitz, Diane Wagener, Michelle WilliamsHeather A. Junkins, William R. Harlan, Erin M. Ramos, Jonathan Haines

Research output: Contribution to journalArticlepeer-review

Abstract

The potential for genome-wide association studies to relate phenotypes to specific genetic variation is greatly increased when data can be combined or compared across multiple studies. To facilitate replication and validation across studies, RTI International (Research Triangle Park, North Carolina) and the National Human Genome Research Institute (Bethesda, Maryland) are collaborating on the consensus measures for Phenotypes and eXposures (PhenX) project. The goal of PhenX is to identify 15 high-priority, well-established, and broadly applicable measures for each of 21 research domains. PhenX measures are selected by working groups of domain experts using a consensus process that includes input from the scientific community. The selected measures are then made freely available to the scientific community via the PhenX Toolkit. Thus, the PhenX Toolkit provides the research community with a core set of high-quality, well-established, low-burden measures intended for use in large-scale genomic studies. PhenX measures will have the most impact when included at the experimental design stage. The PhenX Toolkit also includes links to standards and resources in an effort to facilitate data harmonization to legacy data. Broad acceptance and use of PhenX measures will promote cross-study comparisons to increase statistical power for identifying and replicating variants associated with complex diseases and with gene-gene and gene-environment interactions.

Original languageEnglish (US)
Pages (from-to)253-260
Number of pages8
JournalAmerican journal of epidemiology
Volume174
Issue number3
DOIs
StatePublished - Aug 1 2011

Keywords

  • environmental exposure
  • epidemiologic methods
  • genetic research
  • genetics
  • genome-wide association study
  • meta-analysis as topic
  • phenotype
  • research design

ASJC Scopus subject areas

  • Epidemiology

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