Evidence map›Paper›PMID 34508578›Full record

ArticleGigaScience2021

Desiderata for the development of next-generation electronic health record phenotype libraries.

Martin Chapman, Shahzad Mumtaz, Luke V Rasmussen, Andreas Karwath, Georgios V Gkoutos, Chuang Gao, Dan Thayer, Jennifer A Pacheco, Helen Parkinson, Rachel L Richesson and 3 more

Abstract read
In one paragraph

Article in GigaScience, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed, 1 pooled it
–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

24 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. PhenoFit: a framework for determining computable phenotyping algorithm fitness for purpose and reuse.Journal of the American Medical Informatics Association : JAMIA · 2026
    Article
  5. Review
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  7. Review
  8. Article
  9. Review
  10. Article
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  12. Centralized and Federated Models for the Analysis of Clinical Data.Annual review of biomedical data science · 2024
    Review
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Characterizing variability of electronic health record-driven phenotype definitions.Journal of the American Medical Informatics Association : JAMIA · 2023
    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

13 authors.

Martin ChapmanDepartment of Population Health Sciences, King's College London, London, SE1 1UL, UK.ORCID 0000-0002-5242-9701
Shahzad MumtazHealth Informatics Centre (HIC), University of Dundee, Dundee, DD1 9SY, UK.ORCID 0000-0003-2606-2405
Luke V RasmussenFeinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.ORCID 0000-0002-4497-8049
Andreas KarwathInstitute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, B15 2TT, UK.ORCID 0000-0002-6942-3760
Georgios V GkoutosInstitute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, B15 2TT, UK.ORCID 0000-0002-2061-091X
Chuang GaoHealth Informatics Centre (HIC), University of Dundee, Dundee, DD1 9SY, UK.ORCID 0000-0002-6456-0301
Dan ThayerSAIL Databank, Swansea University, Swansea, SA2 8PP, UK.ORCID 0000-0003-1847-4362
Jennifer A PachecoFeinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.ORCID 0000-0001-8021-5818
Helen ParkinsonEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, CB10 1SD, UK.ORCID 0000-0003-3035-4195
Rachel L RichessonDepartment of Learning Health Sciences, University of Michigan Medical School, MI 48109, USA.ORCID 0000-0003-0279-7036
Emily JeffersonHealth Informatics Centre (HIC), University of Dundee, Dundee, DD1 9SY, UK.ORCID 0000-0003-2992-7582
Spiros DenaxasInstitute of Health Informatics, University College London, London, NW1 2DA, UK.ORCID 0000-0001-9612-7791
Vasa CurcinDepartment of Population Health Sciences, King's College London, London, SE1 1UL, UK.ORCID 0000-0002-8308-2886

Funding

Northwestern Genomic Risk Assessment and Management ProgramU01HG011169 · NHGRI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI REX L CHISHOLM, Elizabeth M McNally · 2020 to 2026
$7.4M
National Infrastructure for Standardized and Portable EHR Phenotyping AlgorithmsR01GM105688 · NIGMS · WEILL MEDICAL COLL OF CORNELL UNIV · PI LUO, YUAN, PATHAK, JYOTISHMAN · 2013 to 2020
$5.7M
Department of HealthMedical Research Council MC_PC_19002Medical Research Council MR/K006584/1Medical Research Council MR/S003991/1NHGRI NIH HHS U01 HG011169NIGMS NIH HHS R01 GM105688Wellcome Trust
6 · The paper itself

Abstract

backgroundHigh-quality phenotype definitions are desirable to enable the extraction of patient cohorts from large electronic health record repositories and are characterized by properties such as portability, reproducibility, and validity. Phenotype libraries, where definitions are stored, have the potential to contribute significantly to the quality of the definitions they host. In this work, we present a set of desiderata for the design of a next-generation phenotype library that is able to ensure the quality of hosted definitions by combining the functionality currently offered by disparate tooling.

methodsA group of researchers examined work to date on phenotype models, implementation, and validation, as well as contemporary phenotype libraries developed as a part of their own phenomics communities. Existing phenotype frameworks were also examined. This work was translated and refined by all the authors into a set of best practices.

resultsWe present 14 library desiderata that promote high-quality phenotype definitions, in the areas of modelling, logging, validation, and sharing and warehousing.

conclusionsThere are a number of choices to be made when constructing phenotype libraries. Our considerations distil the best practices in the field and include pointers towards their further development to support portable, reproducible, and clinically valid phenotype design. The provision of high-quality phenotype definitions enables electronic health record data to be more effectively used in medical domains.

Indexed as

Electronic Health RecordsHumansPhenotypeReproducibility of Resultscomputable phenotypeEHR-based phenotypingelectronic health recordsphenotype library

Identifiers

PMID34508578
PMCPMC8434766

What OpenQuestion holds

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Registered trials

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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.