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Cross Biobank Comparison of Phenomic Profiles.
Abigail Newbury1,2, Xinzhuo Jiang1, Karthik Natarajan1
1Department of Biomedical Informatics, Columbia University, New York City, NY, US.
AMIA ... Annual Symposium Proceedings. AMIA Symposium
|February 23, 2026
Summary
The All of Us (AoU) Research Program shows higher prevalence for most phenotypes than UK Biobank (UKBB). Differences in social determinants of health and genome-wide association study results were observed for select diseases.
Area of Science:
- Biomedical Informatics
- Genomics
- Population Health
Background:
- The All of Us (AoU) Research Program and UK Biobank (UKBB) offer extensive electronic health record (EHR) data.
- The Observational Health Data Sciences and Informatics (OHDSI) Phenotype Library (PL) contains numerous complex phenotyping algorithms.
Purpose of the Study:
- To compare the prevalence of 423 OHDSI PL cohorts across AoU and UKBB.
- To analyze demographic, social determinants of health (SDOH), geographic, and genome-wide association study (GWAS) differences for Type 2 Diabetes (T2D), COPD, and Acute Myocardial Infarction (AMI) between AoU and UKBB.
Main Methods:
- Rule-based phenotyping algorithms were applied to EHR data from AoU and UKBB.
- Prevalence of 423 OHDSI PL cohorts was compared between the two biobanks.
- Demographics, SDOH, geographic prevalence, and GWAS results were analyzed for T2D, COPD, and AMI.
Main Results:
- AoU exhibited significantly higher prevalence for 80% of the evaluated phenotypes compared to UKBB.
- Significant differences in SDOH variables were identified between AoU and UKBB for the selected diseases.
- GWAS analyses in UKBB identified more associated genes for T2D, COPD, and AMI than in AoU.
Conclusions:
- The study highlights significant differences in phenotype prevalence and characteristics between the AoU Research Program and UK Biobank.
- Findings underscore the importance of considering biobank-specific data characteristics when conducting large-scale observational health research.
- Differences in SDOH and genetic associations warrant further investigation for diseases like T2D, COPD, and AMI.
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