Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record.
Wei-Qi WeiLisa A BastaracheRobert J CarrollJoy E MarloTravis J OstermanEric R GamazonNancy J CoxDan M RodenJoshua C DennyPublished in: PloS one (2017)
Our results suggest that the phecode groupings better align with clinical diseases mentioned in clinical practice or for genomic studies. ICD-9-CM, CCS, and phecode groupings all worked for PheWAS-type studies, though the phecode groupings produced superior results.