Dataset Information
Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics.
Ontology highlight
ABSTRACT: Motivation
Phecodes are widely used and easily adapted phenotypes based on International Classification of Diseases codes. The current version of phecodes (v1.2) was designed primarily to study common/complex diseases diagnosed in adults; however, there are numerous limitations in the codes and their structure.Results
Here, we present phecodeX, an expanded version of phecodes with a revised structure and 1,761 new codes. PhecodeX adds granularity to phenotypes in key disease domains that are under-represented in the current phecode structure-including infectious disease, pregnancy, congenital anomalies, and neonatology-and is a more robust representation of the medical phenome for global use in discovery research.Availability and implementation
phecodeX is available at https://github.com/PheWAS/phecodeX.
SUBMITTER: Shuey MM
PROVIDER: S-EPMC10627409 | biostudies-literature | 2023 Nov
REPOSITORIES: biostudies-literature
Publications
Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics.
Bioinformatics (Oxford, England) 20231101 11
<h4>Motivation</h4>Phecodes are widely used and easily adapted phenotypes based on International Classification of Diseases codes. The current version of phecodes (v1.2) was designed primarily to study common/complex diseases diagnosed in adults; however, there are numerous limitations in the codes and their structure.<h4>Results</h4>Here, we present phecodeX, an expanded version of phecodes with a revised structure and 1,761 new codes. PhecodeX adds granularity to phenotypes in key disease doma ...[more]