Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics

Bioinformatics, 2023

Plain-language summary

Phecodes are widely used phenotype definitions built from International Classification of Diseases codes, but the existing version (v1.2) was designed mainly for common, complex diseases in adults and has structural limitations. This paper introduces phecodeX, an expanded version with a revised structure and 1,761 new codes that add detail in areas previously under-represented, including infectious disease, pregnancy, congenital anomalies, and neonatology. The result is a more robust representation of the medical phenome for discovery research, and it is made freely available on GitHub.

Read the full paper (DOI: 10.1093/bioinformatics/btad655).

This is a plain-language summary written for discoverability; the authoritative version is the published paper. Part of Travis Osterman's peer-reviewed publications.