Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2011 Aug 1;174(3):253-60.
doi: 10.1093/aje/kwr193. Epub 2011 Jul 11.

The PhenX Toolkit: get the most from your measures

Affiliations

The PhenX Toolkit: get the most from your measures

Carol M Hamilton et al. Am J Epidemiol. .

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.

PubMed Disclaimer

Figures

Figure 1.
Figure 1.
Consensus process used in the consensus measures for Phenotypes and eXposures (PhenX) project. SC, Steering Committee; WG, Working Group.
Figure 2.
Figure 2.
Home page of the consensus measures for Phenotypes and eXposures (PhenX) Toolkit.
Figure 3.
Figure 3.
Benefits of using measures from the consensus measures for Phenotypes and eXposures (PhenX) Toolkit. CVD, cardiovascular disease.

Comment in

References

    1. Pennisi E. Breakthrough of the year: human genetic variation. Science. 2007;318(5858):1842–1843. - PubMed
    1. International HapMap Consortium. A haplotype map of the human genome. Nature. 2005;437(7063):1299–1320. - PMC - PubMed
    1. Manolio TA, Brooks LD, Collins FS. A HapMap harvest of insights into the genetics of common disease. J Clin Invest. 2008;118(5):1590–1605. - PMC - PubMed
    1. Pearson TA, Manolio TA. How to interpret a genome-wide association study. JAMA. 2008;299(11):1335–1344. - PubMed
    1. Hindorff LA, Sethupathy P, Junkins HA, et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A. 2009;106(23):9362–9367. - PMC - PubMed

Publication types