Expanding PheWAS Phenotype Categorization
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Corresponding Organization : Vanderbilt University
Other organizations : Pennsylvania State University, Kaiser Permanente Washington Health Research Institute, Marshfield Clinic, Northwestern University, University of Washington, Mayo Clinic, The University of Texas Health Science Center at Houston, National Human Genome Research Institute, Center for Human Genetics, Essentia Health, University of Washington Medical Center
Protocol cited in 52 other protocols
Variable analysis
- Revising and expanding the PheWAS phenotype categorization
- Adding V codes (commonly used to record personal histories of given diseases) and E codes (which refer to external causes of injury) to the PheWAS code mapping
- Redesigning the code system to be hierarchical, such that one phenotype could be a parent of another subphenotype
- Including more granular phenotypes into the coding system
- 1,645 phenotypes identified from International Classification of Disease, Ninth revision, Clinical Modification (ICD9) codes
- 1,358 phenotypes with at least 25 cases (a prevalence of 0.18% in the eMERGE cohort)
- The 2011 version of the Clinical Classifications Software (CCS) produced by the Agency for Healthcare Research and Quality as a guide for the hierarchical organization of the phenotypes
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