PhenX Toolkit

PhenX Toolkit provides standardized, high-priority measures and protocols for biomedical and epidemiologic research, including 16 new measures for assessing rare genetic conditions.


Key Features:

  • Extensive Measure Catalog: Includes 16 new measures for evaluating rare genetic conditions applicable across life stages from birth to adulthood.
  • Diverse Protocols: Offers clinical scales, bioassays, and questionnaires, including measures such as family history, growth charts, and the sweat chloride test.
  • Complementary Measures: Integrates rare genetic condition measures with existing PhenX domains including anthropometrics, demographics, mental health, and reproductive history.
  • Standardization Across Studies: Recommends standardized measures to enhance cross-study comparisons and increase statistical power in research on common and complex diseases.

Scientific Applications:

  • Clinical Research: Supports standardized phenotypic data collection in clinical studies of genetic and non-genetic conditions.
  • Translational Research: Facilitates use of consistent measures to link basic biological findings to clinical outcomes.
  • Epidemiological Research: Enables uniform data collection across diverse study designs to improve comparability and aggregation of datasets.

Methodology:

No computational methods or algorithmic steps are specified in the provided description.

Topics

Details

License:
CC-BY-NC-4.0
Maturity:
Mature
Cost:
Free of charge
Tool Type:
web application
Operating Systems:
Linux, Windows, Mac
Added:
5/10/2019
Last Updated:
4/13/2021

Operations

Data Inputs & Outputs

Publications

Phillips M, Grant T, Giampietro P, Bodurtha J, Valdez R, Maiese DR, Hendershot T, Terry SF, Hamilton CM. PhenX measures for phenotyping rare genetic conditions. Genetics in Medicine. 2017;19(7):834-837. doi:10.1038/gim.2016.199. PMID:28079902. PMCID:PMC5507752.