Evidence map›Paper›PMID 34926996›Full record

ArticleJAMIA open2021

Development of a repository of computable phenotype definitions using the clinical quality language.

Pascal S Brandt, Jennifer A Pacheco, Luke V Rasmussen

Abstract read
In one paragraph

Article in JAMIA open, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Article
  2. PhenoFit: a framework for determining computable phenotyping algorithm fitness for purpose and reuse.Journal of the American Medical Informatics Association : JAMIA · 2026
    Article
  3. Article
  4. Characterizing variability of electronic health record-driven phenotype definitions.Journal of the American Medical Informatics Association : JAMIA · 2023
    Article
  5. Design and validation of a FHIR-based EHR-driven phenotyping toolbox.Journal of the American Medical Informatics Association : JAMIA · 2022
    Article
  6. Review
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

3 authors.

Pascal S BrandtDepartment of Biomedical Informatics and Medical Education, University of Washington, Seattle, Washington, USA.ORCID https://orcid.org/0000-0001-5116-0555
Jennifer A PachecoFeinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.
Luke V RasmussenFeinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.ORCID https://orcid.org/0000-0002-4497-8049

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
NHGRI NIH HHS U01 HG011169NIGMS NIH HHS R01 GM105688
6 · The paper itself

Abstract

objectiveThe objective of this study is to create a repository of computable, technology-agnostic phenotype definitions for the purposes of analysis and automatic cohort identification. MATERIALS AND

methodsWe selected phenotype definitions from PheKB and excluded definitions that did not use structured data or were not used in published research. We translated these definitions into the Clinical Quality Language (CQL) and Fast Healthcare Interoperability Resources (FHIR) and validated them using code review and automated tests.

resultsA total of 33 phenotype definitions met our inclusion criteria. We developed 40 CQL libraries, 231 value sets, and 347 test cases. To support these test cases, a total of 1624 FHIR resources were created as test data. DISCUSSION AND

conclusionAlthough a number of challenges were encountered while translating the phenotypes into structured form, such as requiring specialized knowledge, or imprecise, ambiguous, and conflicting language, we have created a repository and a development environment that can be used for future research on computable phenotypes.

Indexed as

cohort identificationCQLEHR-driven phenotypingFHIR

Identifiers

PMID34926996
PMCPMC8672934

What OpenQuestion holds

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LicenceCC BY-NC
Read underepoch 390

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 OpenQuestion graph.