Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics.
Bioinformatics (Oxford, England)(2023)
摘要
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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