The PhenX Toolkit: get the most from your measures
Open accessAbstract
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.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
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”
From The substance use disorder treatment gap among US college students: Findings from the 2021 National Survey on Drug Use and Health (2024) · cites this paper as Hamilton et al., 2011
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
A haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858 · see citing works
Hindorff, L. A., Sethupathy, P., Junkins, H. A., Ramos, E. M., Mehta, J. P., Collins, F. S., & Manolio, T. A. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0903103106 · Cited by 4,013 · see citing works
Self-citationGenome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
the NIDDK IBD Genetics Consortium, Barrett, J. C., the Belgian-French IBD Consortium, the Wellcome Trust Case Control Consortium, Hansoul, S., Nicolae, D. L., Cho, J. H., Duerr, R. H., Rioux, J. D., Brant, S. R., et al. (2008) · Nature Genetics · doi:10.1038/ng.175 · Cited by 2,593 · see citing works
Wellcome Trust Case Control Consortium, Zeggini, E., Scott, L. J., Saxena, R., Voight, B. F., Marchini, J. L., Hu, T., de Bakker, P. I., Abecasis, G. R., Almgren, P., et al. (2008) · Nature Genetics · doi:10.1038/ng.120 · Cited by 1,864 · see citing works
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
The MAGIC investigators, Voight, B. F., The GIANT Consortium, Scott, L. J., Steinthorsdottir, V., Morris, A. P., Dina, C., Welch, R. P., Zeggini, E., Huth, C., et al. (2010) · Nature Genetics · doi:10.1038/ng.609 · Cited by 1,761 · see citing works
Self-citationThe Type 1 Diabetes Genetics Consortium, Barrett, J. C., Clayton, D. G., Concannon, P., Akolkar, B., Cooper, J. D., Erlich, H. A., Julier, C., Morahan, G., Nerup, J., et al. (2009) · Nature Genetics · doi:10.1038/ng.381 · Cited by 1,746 · see citing works
Risch, N., Herrell, R., Lehner, T., Liang, K.-Y., Eaves, L., Hoh, J., Griem, A., Kovacs, M., Ott, J., & Merikangas, K. R. (2009) · JAMA · doi:10.1001/jama.2009.878 · Cited by 1,655 · see citing works
Genetics of gene expression and its effect on disease
Emilsson, V., Thorleifsson, G., Zhang, B., Leonardson, A. S., Zink, F., Zhu, J., Carlson, S., Helgason, A., Walters, G. B., Gunnarsdottir, S., et al. (2008) · Nature · doi:10.1038/nature06758 · Cited by 1,296 · see citing works
Gene–environment interactions in human diseases
Hunter, D. J. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1578 · Cited by 1,132 · see citing works
The NCBI dbGaP database of genotypes and phenotypes
Mailman, M., Feolo, M., Jin, Y., Kimura, M., Tryka, K., Bagoutdinov, R., Hao, L., Kiang, A., Paschall, J., Phan, L., et al. (2007) · Nature Genetics · doi:10.1038/ng1007-1181 · Cited by 1,122 · see citing works
How to Interpret a Genome-wide Association Study
Pearson, T. A. (2008) · JAMA · doi:10.1001/jama.299.11.1335 · Cited by 964 · see citing works
Common Genetic Variation and Human Traits
Goldstein, D. B. (2009) · New England Journal of Medicine · doi:10.1056/nejmp0806284 · Cited by 918 · see citing works
A HapMap harvest of insights into the genetics of common disease
Manolio, T. A., Brooks, L. D., & Collins, F. S. (2008) · Journal of Clinical Investigation · doi:10.1172/jci34772 · Cited by 889 · cited 1× · see citing works
“Because of the rapid progress in genomic technology, investigators can now analyze hundreds of thousands of genetic polymorphisms (2, 3) against an array of disease phenotypes to identify associations.”
BackgroundLOINC, a Universal Standard for Identifying Laboratory Observations: A 5-Year Update
McDonald, C. J., Huff, S. M., Suico, J. G., Hill, G., Leavelle, D., Aller, R., Forrey, A., Mercer, K., DeMoor, G., Hook, J., et al. (2003) · Clinical Chemistry · doi:10.1373/49.4.624 · Cited by 579 · see citing works
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci
Cooper, J. D., Smyth, D. J., Smiles, A. M., Plagnol, V., Walker, N. M., Allen, J. E., Downes, K., Barrett, J. C., Healy, B. C., Mychaleckyj, J. C., et al. (2008) · Nature Genetics · doi:10.1038/ng.249 · Cited by 531 · see citing works
Genomewide Association Studies — Illuminating Biologic Pathways
Hirschhorn, J. N. (2009) · New England Journal of Medicine · doi:10.1056/nejmp0808934 · Cited by 510 · see citing works
Genetic Risk Prediction — Are We There Yet?
Kraft, P., & Hunter, D. J. (2009) · New England Journal of Medicine · doi:10.1056/nejmp0810107 · Cited by 406 · see citing works
Self-citationA navigator for human genome epidemiology
Yu, W., GWINN, M. L., Clyne, M., Yesupriya, A., & Khoury, M. J. (2008) · Nature Genetics · doi:10.1038/ng0208-124 · Cited by 396 · see citing works
Forrey, A. W., McDonald, C. J., DeMoor, G., Huff, S. M., Leavelle, D., Leland, D., Fiers, T., Charles, L., Griffin, B., Stalling, F., et al. (1996) · Clinical Chemistry · doi:10.1093/clinchem/42.1.81 · Cited by 277 · see citing works
Fortier, I., Burton, P. R., Robson, P. J., Ferretti, V., Little, J., L’Heureux, F., Deschênes, M., Knoppers, B. M., Doiron, D., Keers, J. C., et al. (2010) · International Journal of Epidemiology · doi:10.1093/ije/dyq139 · Cited by 176 · see citing works
Self-citationPennisi, E. (2007) · Science · doi:10.1126/science.318.5858.1842 · Cited by 173 · see citing works
Drinking from the Fire Hose — Statistical Issues in Genomewide Association Studies
Hunter, D. J., & Kraft, P. (2007) · New England Journal of Medicine · doi:10.1056/nejmp078120 · Cited by 172 · see citing works
Self-citationKhoury, M. J., Bertram, L., Boffetta, P., Butterworth, A. S., Chanock, S. J., Dolan, S. M., Fortier, I., García‐Closas, M., GWINN, M. L., Higgins, J. P. T., et al. (2009) · American Journal of Epidemiology · doi:10.1093/aje/kwp119 · Cited by 145 · see citing works
PhenX: a toolkit for interdisciplinary genetics research
Stover, P. J., Harlan, W. R., Hammond, J. A., Hendershot, T. P., & Hamilton, C. M. (2010) · Current Opinion in Lipidology · doi:10.1097/mol.0b013e3283377395 · Cited by 95 · see citing works
Self-citationGenotype–phenotype databases: challenges and solutions for the post-genomic era
Þórisson, G. Á., Muilu, J., & Brookes, A. J. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2483 · Cited by 93 · see citing works
Population Genomics: The Public Population Project in Genomics (P3G): a proof of concept?
Knoppers, B. M., Fortier, I., Legault, D., et al. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.55 · Cited by 84 · see citing works
Manolio, T. A. (2009) · Pharmacogenomics · doi:10.2217/14622416.10.2.235 · Cited by 48 · see citing works
The caBIG terminology review process
Cimino, J. J., Hayamizu, T. F., Bodenreider, O., et al. (2008) · Journal of Biomedical Informatics · doi:10.1016/j.jbi.2008.12.003 · Cited by 34 · see citing works
Building a Biomedical Cyberinfrastructure for Collaborative Research
Schad, P. A., Mobley, L. R., & Hamilton, C. M. (2011) · American Journal of Preventive Medicine · doi:10.1016/j.amepre.2011.01.018 · Cited by 13 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Bovin, M. J., Marx, B. P., Weathers, F. W., Gallagher, M. W., Rodriguez, P., Schnurr, P. P., & Keane, T. M. (2016) · Psychological Assessment · doi:10.1037/pas0000254 · Cited by 2,532 · see citing works
Barch, D. M., Albaugh, M. D., Avenevoli, S., Chang, L., Clark, D. B., Glantz, M. D., Hudziak, J. J., Jernigan, T. L., Tapert, S. F., Yurgelun-Todd, D., et al. (2018) · Developmental Cognitive Neuroscience · doi:10.1016/j.dcn.2017.10.010 · Cited by 814 · see citing works
Annual Research Review: Suicide among youth – epidemiology, (potential) etiology, and treatment
Cha, C. B., Franz, P. J., M. Guzmán, E., Glenn, C. R., Kleiman, E. M., & Nock, M. K. (2018) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.12831 · Cited by 602 · see citing works
Addictions neuroclinical assessment: a neuroscience-based framework for addictive disorders
Kwako, L. E., Momenan, R., Litten, R. Z., Koob, G. F., & Goldman, D. (2016) · Biological Psychiatry · doi:10.1016/j.biopsych.2015.10.024 · Cited by 395 · see citing works
Rapid, responsive, relevant (R3) research: a call for a rapid learning health research enterprise
Riley, W. T., Glasgow, R. E., Etheredge, L., & Abernethy, A. P. (2013) · Clinical and Translational Medicine · doi:10.1186/2001-1326-2-10 · Cited by 267 · see citing works
The Role of cannabinoids in neuroanatomic alterations in cannabis users.
Lorenzetti, V., Solowij, N., & Yücel, M. (2016) · Biological Psychiatry · doi:10.1016/j.biopsych.2015.11.013 · Cited by 208 · see citing works
“The platform PhenX Toolkit previously took steps in this direction to improve the standard of research in substance use (133).”
MethodMental health problems and onset of tobacco use among 12- to 24-year-olds in the PATH study.
Green, V. R., Conway, K. P., Silveira, M. L., Kasza, K. A., Cohn, A., Cummings, K. M., Stanton, C. A., Callahan-Lyon, P., Slavit, W., Sargent, J. D., et al. (2018) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2018.06.029 · Cited by 86 · see citing works
Larsen, S. E., Bellmore, A., Gobin, R. L., Holens, P., Lawrence, K. A., & Pacella-LaBarbara, M. L. (2019) · Journal of Anxiety Disorders · doi:10.1016/j.janxdis.2019.01.008 · Cited by 57 · see citing works
Bot, M., Middeldorp, C. M., de Geus, E. J. C., Lau, H. M., Sinke, M., van Nieuwenhuizen, B., Smit, J. H., Boomsma, D. I., & Penninx, B. W. J. H. (2017) · Psychological Medicine · doi:10.1017/s0033291716002312 · Cited by 56 · see citing works
Ecologically assessed affect and suicidal ideation following psychiatric inpatient hospitalization
Armey, M. F., Brick, L., Schatten, H. T., Nugent, N. R., & Miller, I. W. (2020) · General Hospital Psychiatry · doi:10.1016/j.genhosppsych.2018.09.008 · Cited by 56 · see citing works
Zullig, K. J., Collins, R., Ghani, N., Patton, J. M., Scott Huebner, E., & Ajamie, J. (2014) · Journal of School Health · doi:10.1111/josh.12124 · Cited by 49 · see citing works
Monetary conversion factors for economic evaluations of substance use disorders
McCollister, K., Yang, X., Sayed, B., French, M. T., Leff, J. A., & Schackman, B. R. (2017) · Journal of Substance Abuse Treatment · doi:10.1016/j.jsat.2017.07.008 · Cited by 43 · see citing works
“Five assessment instrumentswere examined in detail: theGlobal Assessment of Individual Needs (GAIN) (Dennis, Titus, White, Unsicker, & Hodgkins, 2008), the Addiction Severity Index (ASI) (McLellan et al., 1992), Nonmedical Services (NMS) (Chandler et al., 2015), EconForm 90 (Bray et al., 2007), and the Phenx Toolkit (…”
Pasman, E., Blair, L., Solberg, M. A., McCabe, S. E., Schepis, T., & Resko, S. M. (2024) · Drug and Alcohol Dependence Reports · doi:10.1016/j.dadr.2024.100279 · Cited by 24 · see citing works
Luciana, M., Barch, D., & Herting, M. M. (2023) · Developmental Cognitive Neuroscience · doi:10.1016/j.dcn.2023.101311 · Cited by 7 · see citing works
Fang, P., Adkins-Hempel, M., Lischka, T., Basile, S., Rindal, D. B., Carpenter, M. J., Kopycka-Kedzierawski, D. T., Dahne, J., Helseth, S. A., Levy, D. E., et al. (2024) · BMC Oral Health · doi:10.1186/s12903-024-04758-w · Cited by 3 · see citing works
- 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.
- ORCID
- Venue
- American Journal of Epidemiology
- Publisher
- Oxford University Press (OUP)
- Published
- 2011-07-11
- Volume
- 174
- Issue
- 3
- Pages
- 253-260
- ISSN
- 0002-9262 (ISSN-L)
- 1476-6256
- PMC
- PMC3141081
- 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
- hybrid
- doi.org
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review