PhenX Toolkit

The PhenX Toolkit is a web-based catalog of high-priority measures related to complex diseases, phenotypic traits and environmental exposures. These measures were selected by working groups of experts using a consensus process.[1] Use of PhenX measures facilitates combining data from a variety of studies, and makes it easy for investigators to expand a study design beyond the primary research focus.[2][3] The Toolkit is funded by the National Institute of Health's National Human Genome Research Institute (NHGRI) with co-funding by the Office of Behavioral and Social Sciences Research (OBSSR) and the National Institute on Drug Abuse (NIDA).[4] Supplemental funding is provided by the National Heart, Lung, and Blood Institute (NHLBI) and the National Institute on Minority Health and Health Disparities (NIMHD).[5] The PhenX Toolkit is available to the scientific community at no cost.

For genome-wide association studies (GWAS) and other studies involving human subjects, the use of standard measures can facilitate cross-study analyses.[6][7] Such analyses compare independent findings to validate results or combine studies to increase sample size and statistical power. This increased power makes it possible to identify more subtle and complex associations such as gene-gene and gene-environment interactions.[8][9][10][11]

The Toolkit provides assessments for 24 research domains. In addition to measures, PhenX also defines protocols. There may be multiple protocols defined for a measure. For example, for smoking cessation, there is an adult protocol and adolescent protocol. PhenX also provides a datatype (e.g., integer, string, date, enumerated, or encoded values) for each PhenX variable.