학술논문
Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics.
Document Type
Article
Author
Shuey, Megan M; Stead, William W; Aka, Ida; Barnado, April L; Bastarache, Julie A; Brokamp, Elly; Campbell, Meredith; Carroll, Robert J; Goldstein, Jeffrey A; Lewis, Adam; Malow, Beth A; Mosley, Jonathan D; Osterman, Travis; Padovani-Claudio, Dolly A; Ramirez, Andrea; Roden, Dan M; Schuler, Bryce A; Siew, Edward; Sucre, Jennifer; Thomsen, Isaac
Source
Subject
*MEDICAL research
*NOSOLOGY
*COMMUNICABLE diseases
*CONGENITAL disorders
*HUMAN abnormalities
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Language
ISSN
1367-4803
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. [ABSTRACT FROM AUTHOR]