Cited by 889Genetic Associations and EpidemiologyHealth, Environment, Cognitive AgingResearch Data Management Practices

The PhenX Toolkit: get the most from your measures

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Hamilton, C. M., Strader, L. C., Pratt, J. G., Maiese, D., Hendershot, T., Kwok, R. K., Hammond, J. A., Huggins, W. +16 more·2011·American Journal of Epidemiology

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.

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  • Past-year psychological distress was measured using the K-6 scale, a validated instrument for measuring recent non-specific psychological distress.

    “Past-year psychological distress was measured using the Kessler Psychological Distress (K-6) scale (Kessler et al., 2002). The K-6 is a validated instrument for measuring recent non-specific psychological distress that is included in the PhenX toolkit (Hamilton et al., 2011) and widely used in substance use research”

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Authors
Hamilton, C. M., Strader, L. C., Pratt, J. G., Maiese, D., Hendershot, T., Kwok, R. K., Hammond, J. A., Huggins, W., Jackman, D., Pan, H., Nettles, D. S., Beaty, T. H., Farrer, L. A., Kraft, P., Marazita, M. L., Ordovas, J. M., Pato, C. N., Spitz, M. R., Wagener, D., Williams, M., Junkins, H. A., Harlan, W. R., Ramos, E. M., & Haines, J.
Affiliations
RTI International (US)
Corresponding author
Hamilton, C. M.
Venue
American Journal of Epidemiology
Published
2011-07-11
Volume
174
Issue
3
Pages
253-260
ISSN
  • 0002-9262 (ISSN-L)
  • 1476-6256
OpenAlex
W2152410429
Cited by
889
References
29
Citations by year
2026: 72 · 2025: 118 · 2024: 112 · 2023: 108 · 2022: 78 · 2021: 78 · 2020: 82 · 2019: 33 · 2018: 35 · 2017: 42 · 2016: 29 · 2015: 31 · 2014: 20 · 2013: 21 · 2012: 22
FWCI
13.77
Type
journal article
Language
en
Open access
Licence
cc-by-nc
Locations
  • American Journal of Epidemiology (publishedVersion, cc-by-nc)
  • PubMed Central (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
Funders
  • University of Southern California
  • Vanderbilt University
  • School of Medicine, Boston University
  • University of Washington
  • Johns Hopkins University
  • University of Pittsburgh
  • RTI International
  • National Institutes of Health
  • Johns Hopkins Bloomberg School of Public Health
  • School of Dental Medicine, University of Pittsburgh
  • National Human Genome Research Institute (U01HG004597)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Physical Sciences › Environmental Science › Health, Toxicology and Mutagenesis › Health, Environment, Cognitive Aging
  • Physical Sciences › Computer Science › Information Systems › Research Data Management Practices
Keywords
consensus measures, exposure measurement, genome-wide association study, data harmonization, complex diseases, gene-environment interaction, gene-gene interaction, research data standards
MeSH terms
Genotype, Humans, Phenotype, Polymorphism, Genetic, Reference Standards, Genome, Human, Computational Biology, Internet, Genomics, Information Dissemination, Genome-Wide Association Study

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