ArticleAmerican journal of epidemiology2021
A System for Phenotype Harmonization in the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Program.
Article in American journal of epidemiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 2 of them syntheses that pooled it.
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Who cites it
48 citing papers in PubMed, 2 syntheses or guidelines pooled it, 66 citations in OpenAlex.
- Clonal Hematopoiesis of Indeterminate Potential (CHIP) and Incident Type 2 Diabetes Risk.Diabetes care · 2023Pooled it
- Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies.Nature genetics · 2023Pooled it
- Admixture-informed polygenic risk reporting using the ePRS framework.Nature communications · 2026Article
- Prospective Associations of Obesity and Obesity Severity With 9 Cardiovascular Outcomes: The Cross-Cohort Collaboration.Circulation · 2026Article
- Integrative Harmonization of Phenotypic and Genomic Data Improves Bone Mineral Density Prediction in Multi-Study Osteoporosis Research.Genetic epidemiology · 2026Article
- PIC-SURE: an open-source platform for integrating clinical and genomic data.NPJ digital medicine · 2025Article
- Data sharing in the PRIMED Consortium: Design, implementation, and recommendations for future policymaking.American journal of human genetics · 2025Review
- A data model for population descriptors in genomic research.American journal of human genetics · 2025Review
- Unveiling the Genetic Landscape of Coronary Artery Disease Through Common and Rare Structural Variants.Journal of the American Heart Association · 2025Article
- Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood.American journal of human genetics · 2025Article
- A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies.Nature computational science · 2025Article
- Robust Automated Harmonization of Heterogeneous Data Through Ensemble Machine Learning: Algorithm Development and Validation Study.JMIR medical informatics · 2025Article
- The PRIMED Consortium: Reducing disparities in polygenic risk assessment.American journal of human genetics · 2024Article
- Genetic determinants and phenotypic consequences of blood T-cell proportions in 207,000 diverse individuals.Nature communications · 2024Article
- Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium.Human molecular genetics · 2024Article
- Review
- Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Machine learning models for predicting blood pressure phenotypes by combining multiple polygenic risk scores.Scientific reports · 2024Article
- Sex Differences in the Association of Multiethnic Genome-Wide Blood Pressure Polygenic Risk Score With Population-Level Systolic Blood Pressure Trajectories.Circulation. Genomic and precision medicine · 2024Article
- Machine learning models for blood pressure phenotypes combining multiple polygenic risk scores.medRxiv : the preprint server for health sciences · 2023Article
Corrections and comments
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Authors and funding
72 authors.
Funding
Abstract
Genotype-phenotype association studies often combine phenotype data from multiple studies to increase statistical power. Harmonization of the data usually requires substantial effort due to heterogeneity in phenotype definitions, study design, data collection procedures, and data-set organization. Here we describe a centralized system for phenotype harmonization that includes input from phenotype domain and study experts, quality control, documentation, reproducible results, and data-sharing mechanisms. This system was developed for the National Heart, Lung, and Blood Institute's Trans-Omics for Precision Medicine (TOPMed) program, which is generating genomic and other -omics data for more than 80 studies with extensive phenotype data. To date, 63 phenotypes have been harmonized across thousands of participants (recruited in 1948-2012) from up to 17 studies per phenotype. Here we discuss challenges in this undertaking and how they were addressed. The harmonized phenotype data and associated documentation have been submitted to National Institutes of Health data repositories for controlled access by the scientific community. We also provide materials to facilitate future harmonization efforts by the community, which include 1) the software code used to generate the 63 harmonized phenotypes, enabling others to reproduce, modify, or extend these harmonizations to additional studies, and 2) the results of labeling thousands of phenotype variables with controlled vocabulary terms.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.