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Related Experiment Video

Updated: Jul 9, 2025

Enumeration of Major Peripheral Blood Leukocyte Populations for Multicenter Clinical Trials Using a Whole Blood Phenotyping Assay
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Developing and evaluating pediatric phecodes (Peds-Phecodes) for high-throughput phenotyping using electronic health

Monika E Grabowska1, Sara L Van Driest2, Jamie R Robinson1,3

  • 1Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37203, United States.

Journal of the American Medical Informatics Association : JAMIA
|December 2, 2023
PubMed
Summary

Pediatric phecodes (Peds-Phecodes) were developed to improve the analysis of childhood diseases. These specialized codes enhance genotype-phenotype association studies in children, offering superior results compared to existing methods.

Keywords:
electronic health records (EHRs)genomicspediatricsphecodesphenome-wide association study (PheWAS)phenotyping

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Area of Science:

  • Genomics
  • Pediatric Medicine
  • Bioinformatics

Background:

  • Existing phecodes inadequately represent the unique disease spectrum in pediatric patients.
  • Accurate phenotyping is crucial for understanding pediatric diseases and genetic associations.

Purpose of the Study:

  • To develop specialized pediatric phecodes (Peds-Phecodes) for efficient, large-scale phenotypic analysis in children.
  • To enhance the capture of pediatric-specific phenotypes from electronic health records (EHRs).

Main Methods:

  • A hybrid data- and knowledge-driven approach was used, modifying existing phecodes with EHR and genetic data.
  • Phenotype prevalence was compared between pediatric and adult populations to identify distinct conditions.
  • Clinical domain expertise was applied to refine and create pediatric-relevant phecodes.
  • Phenome-wide association studies (PheWAS) were used to validate Peds-Phecodes against existing phecodes.

Main Results:

  • Peds-Phecodes aggregate 15,533 ICD-9-CM and 82,949 ICD-10-CM codes into 2051 distinct phecodes.
  • Peds-Phecodes demonstrated superior replication of known pediatric genotype-phenotype associations (248 vs. 192) compared to standard phecodes.
  • The developed Peds-Phecodes showed higher quality pediatric phenotype capture.

Conclusions:

  • Peds-Phecodes represent a high-throughput phenotyping tool specifically for pediatric populations.
  • Validation through genetic replication studies confirms the utility of Peds-Phecodes.
  • Peds-Phecodes are expected to facilitate large-scale phenomic and genomic research in pediatrics, potentially uncovering novel associations.