Fun with Phecodes - Next-Generation Phenotyping for Enhanced Discovery Research
Computational Genomics Summer Institute CGSI via YouTube
Overview
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Explore the innovative world of phecodes and their application in medical phenomics research through this 29-minute conference talk from the Computational Genomics Summer Institute. Discover how phecodes serve as a powerful tool for translating complex medical diagnoses into standardized, research-ready formats that enable large-scale genomic studies. Learn about the development and implementation of next-generation phenotyping methods, including the introduction of phecodeX for enhanced discovery research. Understand how these standardized phenotype codes facilitate the identification of genetic associations, enable phenome-wide association studies (PheWAS), and support precision medicine initiatives. Gain insights into the practical applications of phecodes in electronic health record data mining, biobank research, and genomic discovery studies, while exploring real-world examples of how this methodology has advanced our understanding of disease genetics and patient stratification.
Syllabus
Lisa Bastarache | Fun with Phecodes | CGSI 2025
Taught by
Computational Genomics Summer Institute CGSI