ArticleJournal of the American Medical Informatics Association : JAMIA2020
Development and validation of phenotype classifiers across multiple sites in the observational health data sciences and informatics network.
Article in Journal of the American Medical Informatics Association : JAMIA, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- A Systematic Review to Summarize and Critically Appraise Existing Phenotype Libraries Using Electronic Health Records.Pharmacoepidemiology and drug safety · 2026Pooled it
- Using machine learning methods to predict all-cause somatic hospitalizations in adults: A systematic review.PloS one · 2024Pooled it
- A comparison of Fast Healthcare Interoperability Resources and Observational Medical Mutcomes Partnership electronic health record data within the All of Us Research Program.Journal of the American Medical Informatics Association : JAMIA · 2026Article
- Computable Phenotype for Identifying Undiagnosed Hypermobile Ehlers-Danlos Syndrome: Protocol for a Development and Validation Study.JMIR research protocols · 2026Article
- Leveraging artificial intelligence and machine learning to accelerate discovery of disease-modifying therapies in type 1 diabetes.Diabetologia · 2025Review
- Endometriosis and autoimmunity: a large-scale case-control study of endometriosis and 10 distinct autoimmune diseases.npj women's health · 2025Article
- Clinical Research Informatics: a Decade-in-Review.Yearbook of medical informatics · 2024Review
- OHDSI Standardized Vocabularies-a large-scale centralized reference ontology for international data harmonization.Journal of the American Medical Informatics Association : JAMIA · 2024Article
- The Stanford Medicine data science ecosystem for clinical and translational research.JAMIA open · 2023Article
- Article
- From real-world electronic health record data to real-world results using artificial intelligence.Annals of the rheumatic diseases · 2023Review
- Machine learning approaches for electronic health records phenotyping: a methodical review.Journal of the American Medical Informatics Association : JAMIA · 2023Article
- Portability of natural language processing methods to detect suicidality from clinical text in US and UK electronic health records.Journal of affective disorders reports · 2022Article
- Standard Vocabularies to Improve Machine Learning Model Transferability With Electronic Health Record Data: Retrospective Cohort Study Using Health Care-Associated Infection.JMIR medical informatics · 2022Article
- Classifying Infection Risk Following Pediatric Cardiac Surgery.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2022Article
- Key Contributions in Clinical Research Informatics.Yearbook of medical informatics · 2021Review
- ACE: the Advanced Cohort Engine for searching longitudinal patient records.Journal of the American Medical Informatics Association : JAMIA · 2021Article
- Clinical comparison between trial participants and potentially eligible patients using electronic health record data: A generalizability assessment method.Journal of biomedical informatics · 2021Article
- Leveraging the Electronic Health Record to Address the COVID-19 Pandemic.Mayo Clinic proceedings · 2021Review
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
objectiveAccurate electronic phenotyping is essential to support collaborative observational research. Supervised machine learning methods can be used to train phenotype classifiers in a high-throughput manner using imperfectly labeled data. We developed 10 phenotype classifiers using this approach and evaluated performance across multiple sites within the Observational Health Data Sciences and Informatics (OHDSI) network. MATERIALS AND
methodsWe constructed classifiers using the Automated PHenotype Routine for Observational Definition, Identification, Training and Evaluation (APHRODITE) R-package, an open-source framework for learning phenotype classifiers using datasets in the Observational Medical Outcomes Partnership Common Data Model. We labeled training data based on the presence of multiple mentions of disease-specific codes. Performance was evaluated on cohorts derived using rule-based definitions and real-world disease prevalence. Classifiers were developed and evaluated across 3 medical centers, including 1 international site.
resultsCompared to the multiple mentions labeling heuristic, classifiers showed a mean recall boost of 0.43 with a mean precision loss of 0.17. Performance decreased slightly when classifiers were shared across medical centers, with mean recall and precision decreasing by 0.08 and 0.01, respectively, at a site within the USA, and by 0.18 and 0.10, respectively, at an international site. DISCUSSION AND
conclusionWe demonstrate a high-throughput pipeline for constructing and sharing phenotype classifiers across sites within the OHDSI network using APHRODITE. Classifiers exhibit good portability between sites within the USA, however limited portability internationally, indicating that classifier generalizability may have geographic limitations, and, consequently, sharing the classifier-building recipe, rather than the pretrained classifiers, may be more useful for facilitating collaborative observational research.
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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.