Evidence map›Paper›PMID 42246620›Full record

ArticleJournal of the American Medical Informatics Association : JAMIA2026

Theory and practice in biomedical informatics: a framework for discovery.

William W Stead, Constantin F Aliferis, Lisa Bastarache, Nancy M Lorenzi, W Ed Hammond

Abstract read
In one paragraph

Article in Journal of the American Medical Informatics Association : JAMIA, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

5 authors.

William W SteadDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, 37203, United States.ORCID 0000-0002-5048-9540
Constantin F AliferisInstitute of Health Informatics, University of Minnesota, Minneapolis, MN, 55455, United States.
Lisa BastaracheDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, 37203, United States.
Nancy M LorenziDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, 37203, United States.
W Ed HammondDepartment of Biostatistics and Bioinformatics, Duke University Medical Center, Durham, NC, 27710, United States.

Funding

University of Minnesota Clinical and Translational Science Institute (UMN CTSI)UM1TR004405 · NCATS · UNIVERSITY OF MINNESOTA · PI Bruce R Blazar, Damien A Fair · 2023 to 2026
$30.8M
Translating the Clinical Knowledge of Mendelian Diseases to Real-world EHR Data to Improve Identification of Undiagnosed PatientsR01HG012657 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Lisa Bastarache, Douglas Ruderfer · 2022 to 2026
$4.3M
McKesson Foundation Chair in Biomedical InformaticsNCATS NIH HHS UM1TR004405NHGRI NIH HHS R01 HG012657NHGRI NIH HHS R01HG012657NHLBI NIH HHS R01HG012657NHLBI NIH HHS R01HL169347 and R01HL153497NIA NIH HHS U54AG076041 and U54AG079754Vanderbilt University Medical Center
6 · The paper itself

Abstract

objectiveClarify disciplinary foundations and internal structure of biomedical informatics.

methodsWe analyze BMI's emergence at disciplinary intersections and map its internal structure across 4 domains: theory and practice of knowledge discovery, knowledge representation and reasoning, knowledge architecture, and knowledge-driven transformation. We compare BMI with mathematics, computer science, biostatistics, and biomedical engineering, and illustrate emergent characteristics through a precision medicine example.

resultsBMI's distinctive contribution-elucidating the structure of biomedical knowledge and developing methods to discover, preserve, and make knowledge actionable-requires strength across all 4 domains. BMI developed these domains pragmatically: building systems, extracting principles, and formalizing theories. The discipline must now complement empirical approaches with rigorous theoretical work: assessing adequacy of existing theories, identifying gaps, and orchestrating collaborative development.

conclusionsBMI creates emergent capabilities across disciplines. As biomedicine becomes increasingly complex, BMI must strengthen its theoretical foundations while demonstrating transformative potential of knowledge spanning biological scales and time.

Indexed as

Knowledge DiscoveryMedical InformaticsBiomedical EngineeringBiostatisticsHumansMathematicsPrecision Medicinebiomedical informaticsinterdisciplinary communicationknowledge discoveryknowledge representationtheoretical foundations

Identifiers

PMID42246620
PMCPMC13385994

What OpenQuestion holds

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LicenceCC BY-NC
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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 OpenQuestion graph.