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Senior Management Team
Past Committee Members
Working Group Members
Rare Genetic Conditions
First 21 Domains
Working Group Members
Infectious Diseases and Immunity
Nutrition and Dietary Supplements
Physical Activity & Physical Fitness
Skin, Bone, Muscle and Joint
Speech and Hearing
Expert Review Panels
TRR Working Group Members
MHR Working Group Members
SAA Working Group Members
Community, Comorbidities, and Outcomes
Sickle Cell Disease
PhenX, led by RTI International and funded by the National Human Genome Research Institute (NHGRI), is helping to integrate genetics and epidemiologic research.
The PhenX Toolkit includes a total of 339 measures in 21 research domains, along with the Substance Abuse and Addiction Collections of measures.
The PhenX WGs uses a consensus process and considers input from the scientific community on proposed measures. Up to 15 measures are selected for inclusion in the Toolkit.
Toolkit measures are well-established, high-quality, low-burden measures and are intended for use in genome-wide association studies (GWAS) and other types of studies.
Widespread adoption of PhenX measures will greatly facilitate cross-study comparisons and analyses.
The web-based PhenX Toolkit is available to the public and is intended for use by investigators who are designing or expanding genomics-based studies. There is no fee for using the Toolkit.
is now available at:
A Steering Committee (SC) of distinguished experts from the scientific community guides the selection of the measures and promotes their use. Research domains include diseases and conditions, lifestyle factors, demographics, anthropometrics, and environmental exposures.
Working Groups (WGs) were assembled for each research domain. Each WG used a consensus-based process to select up to 15 measures for inclusion in the Toolkit. As part of the process, the scientific community provides feedback on the measures; this input is considered by the WGs during their deliberations.
To ensure that the Toolkit measures remain highly relevant and useful to the scientific community and reflective of current science, a rolling review of the measures in the 21 research domains will be conducted by an Expert Review Panel (ERP) consisting of two to three experts in the field.
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