Evidence mapPaperPMID 36933631Full record

ArticleJournal of biomedical informatics2023

Trends and opportunities in computable clinical phenotyping: A scoping review.

Ting He, Anas Belouali, Jessica Patricoski, Harold Lehmann, Robert Ball, Valsamo Anagnostou, Kory Kreimeyer, Taxiarchis Botsis

Abstract readScoping Review
In one paragraph

Article in Journal of biomedical informatics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed
field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

26 citing papers in PubMed.

  1. Article
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  5. Observational
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  8. The active construction of past episodes.Translational neuroscience · 2026
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  9. Multimodal Training to Unimodal Deployment: Leveraging Unstructured Data During Training to Optimize Structured Data Only Deployment.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2026
    Article
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  14. Review
  15. Generalizability of kidney transplant data in electronic health records - The Epic Cosmos database vs the Scientific Registry of Transplant Recipients.American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons · 2025
    Article
  16. Observational
  17. Article
  18. Automated Shared Phenotype Discovery in Undiagnosed Cohorts for Rare Disease Research.Proceedings of the ... International Conference on Machine Learning and Applications. International Conference on Machine Learning and Applications · 2024
    Article
  19. Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Ting HeDepartment of Oncology, The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Biomedical Informatics and Data Science Section, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address: the14@jh.edu.
Anas BeloualiBiomedical Informatics and Data Science Section, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Jessica PatricoskiBiomedical Informatics and Data Science Section, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Harold LehmannBiomedical Informatics and Data Science Section, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Robert BallOffice of Surveillance and Epidemiology, Center for Drug Evaluation and Research, US FDA, Silver Spring, MD, USA.
Valsamo AnagnostouDepartment of Oncology, The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Kory KreimeyerDepartment of Oncology, The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Biomedical Informatics and Data Science Section, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Taxiarchis BotsisDepartment of Oncology, The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Biomedical Informatics and Data Science Section, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address: tbotsis1@jhmi.edu.

Funding

Johns Hopkins Training Program in Biomedical Informatics and Data ScienceT15LM013979 · JOHNS HOPKINS UNIVERSITY · 2025 to 2025
$453k
NLM NIH HHS T15 LM013979
6 · The paper itself

Abstract

Identifying patient cohorts meeting the criteria of specific phenotypes is essential in biomedicine and particularly timely in precision medicine. Many research groups deliver pipelines that automatically retrieve and analyze data elements from one or more sources to automate this task and deliver high-performing computable phenotypes. We applied a systematic approach based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines to conduct a thorough scoping review on computable clinical phenotyping. Five databases were searched using a query that combined the concepts of automation, clinical context, and phenotyping. Subsequently, four reviewers screened 7960 records (after removing over 4000 duplicates) and selected 139 that satisfied the inclusion criteria. This dataset was analyzed to extract information on target use cases, data-related topics, phenotyping methodologies, evaluation strategies, and portability of developed solutions. Most studies supported patient cohort selection without discussing the application to specific use cases, such as precision medicine. Electronic Health Records were the primary source in 87.1 % (N = 121) of all studies, and International Classification of Diseases codes were heavily used in 55.4 % (N = 77) of all studies, however, only 25.9 % (N = 36) of the records described compliance with a common data model. In terms of the presented methods, traditional Machine Learning (ML) was the dominant method, often combined with natural language processing and other approaches, while external validation and portability of computable phenotypes were pursued in many cases. These findings revealed that defining target use cases precisely, moving away from sole ML strategies, and evaluating the proposed solutions in the real setting are essential opportunities for future work. There is also momentum and an emerging need for computable phenotyping to support clinical and epidemiological research and precision medicine.

Indexed as

AlgorithmsElectronic Health RecordsMachine LearningNatural Language ProcessingPhenotypeCohort selectionComputable phenotypePrecision medicinePrecision oncology

Identifiers

PMID36933631
PMCPMC13246318

What Socratic holds

Textmetadata
LicenceCC BY
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Registered trials

None linked

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 Socratic graph.