Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics.
Where this comes from
- Record sourced from PubMed, PMID 37930895.
- Also identified by DOI 10.1093/bioinformatics/btad655 and PMC identifier 10627409.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
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. 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. phecodeX is available at https://github.com/PheWAS/phecodeX.
Medical subject headings
- Phenomics
- Genome-Wide Association Study