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. 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.
The Toolkit is funded by the
National Human Genome Research Institute
The National Human Genome Research Institute (NHGRI) is an institute of the National Institutes of Health, located in Bethesda, Maryland.
NHGRI began as the Office of Human Genome Research in The Office of the Director in 1988. This Office transi ...
(NHGRI) of the National Institutes of Health (NIH) with co-funding by the Office of Behavioral and Social Sciences Research (OBSSR) and the
National Institute on Drug Abuse
The National Institute on Drug Abuse (NIDA) is a United States federal government research institute whose mission is to "advance science on the causes and consequences of drug use and addiction and to apply that knowledge to improve individual a ...
(NIDA).
Supplemental funding is provided by the
National Heart, Lung, and Blood Institute
The National Heart, Lung, and Blood Institute (NHLBI) is the third largest Institute of the National Institutes of Health, located in Bethesda, Maryland, United States. It is tasked with allocating about $3.6 billion in FY 2020 in tax revenue t ...
(NHLBI) and the National Institute on Minority Health and Health Disparities (NIMHD).
The PhenX Toolkit is available to the scientific community at no cost.
For
genome-wide association studies
In genomics, a genome-wide association study (GWA study, or GWAS), also known as whole genome association study (WGA study, or WGAS), is an observational study of a genome-wide set of genetic variants in different individuals to see if any varian ...
(GWAS) and other studies involving human subjects, the use of standard measures can facilitate cross-study analyses.
Such analyses compare independent findings to validate results or combine studies to increase sample size and
statistical power
In statistics, the power of a binary hypothesis test is the probability that the test correctly rejects the null hypothesis (H_0) when a specific alternative hypothesis (H_1) is true. It is commonly denoted by 1-\beta, and represents the chances ...
. This increased power makes it possible to identify more subtle and complex associations such as gene-gene and
gene-environment interactions. PhenX is an NIH Common Data Element (CDE) Repository project and supports the NIH Strategic Plan for Data Science, which promotes FAIR principles (i.e., Findable, Accessible, Interoperable, Reusable) to facilitate data sharing.
In 2020, PhenX collaborated with the U.S. NIH's Public Health Emergency and Disaster Research Response Program (DR2) to collect and review research protocols for epidemiologists, clinicians and other scientists studying COVID-19. The Toolkit released six specialty collections of protocols to promote the use of CDEs for research on COVID-19 in October 2020.
See also
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Patient-Reported Outcomes Measurement Information System
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Health informatics
Health informatics is the field of science and engineering that aims at developing methods and technologies for the acquisition, processing, and study of patient data, which can come from different sources and modalities, such as electronic hea ...
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REDCap (Research Electronic Data Capture)
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LOINC
Logical Observation Identifiers Names and Codes (LOINC) is a database and universal standard for identifying medical laboratory observations. First developed in 1994, it was created and is maintained by the Regenstrief Institute, a US nonprofit me ...
References
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External links
dbGaP
NIH Common Data Elements (CDE) Repository
Health informatics
American medical websites