PubMed · 37930895
Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics.
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.
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Megan M Shuey, William W Stead, Ida Aka, April L Barnado, Julie A Bastarache, Elly Brokamp, Meredith Campbell, Robert J Carroll, Jeffrey A Goldstein, Adam Lewis, Beth A Malow, Jonathan D Mosley, Travis Osterman, Dolly A Padovani-Claudio, Andrea Ramirez, Dan M Roden, Bryce A Schuler, Edward Siew, Jennifer Sucre, Isaac Thomsen, Rory J Tinker, Sara Van Driest, Colin Walsh, Jeremy L Warner, Quinn S Wells, Lee Wheless, Lisa Bastarache. 2023-11-01. Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics.. https://doi.org/10.1093/bioinformatics%2Fbtad655
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