Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record
Plain-language summary
This study compared three ways of grouping electronic health record billing codes (raw ICD-9-CM codes, the Clinical Classification Software groupings, and manually curated phecodes) for how well each captures clinically meaningful phenotypes and reproduces known genetic associations, using 100 phenotypes and 440 SNP-phenotype pairs. Phecodes exactly matched 83 of the 100 phenotypes, compared with 53 for ICD-9-CM and 32 for CCS, and replicated more known genetic associations with generally stronger effect sizes. The results support phecodes as a better-suited coding scheme for phenome-wide association studies in electronic health records.
Read the full paper (DOI: 10.1371/journal.pone.0175508).
This is a plain-language summary written for discoverability; the authoritative version is the published paper. Part of Travis Osterman's peer-reviewed publications.