Evidence map›Paper›PMID 27632993›Full record

ArticleJournal of the American Medical Informatics Association : JAMIA2017

Surrogate-assisted feature extraction for high-throughput phenotyping.

Sheng Yu, Abhishek Chakrabortty, Katherine P Liao, Tianrun Cai, Ashwin N Ananthakrishnan, Vivian S Gainer, Susanne E Churchill, Peter Szolovits, Shawn N Murphy, Isaac S Kohane and 1 more

Registry-linked trialAbstract read
In one paragraph

Article in Journal of the American Medical Informatics Association : JAMIA, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04331535 (Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care), which is not on this map. Cited by 52 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
52citing 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.

NCT04331535 naunknown statusnot on this mapstarted 2020, after this paper: background citation

Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care

TypeinterventionalSponsorBoston VA Research Institute, Inc.Ran2020 to 2025Enrolled1,076ConditionsCoronary Artery Disease, Atrial Fibrillation, Type 2 Diabetes, Colorectal CancerArmsPolygenic risk score (PRS)
3 · Its place in the literature

Who cites it

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

  1. Pooled it
  2. Article
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  4. Article
  5. Article
  6. Review
  7. SepsisJournal of medical microbiology · 2025
    Review
  8. Biomedical literature-based clinical phenotype definition discovery using large language models.Database : the journal of biological databases and curation · 2025
    Article
  9. Article
  10. Article
  11. Semi-supervised ROC analysis for reliable and streamlined evaluation of phenotyping algorithms.Journal of the American Medical Informatics Association : JAMIA · 2024
    Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Machine learning approaches for electronic health records phenotyping: a methodical review.Journal of the American Medical Informatics Association : JAMIA · 2023
    Article
  17. Article
  18. 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

11 authors.

Sheng YuCenter for Statistical Science, Tsinghua University, Beijing, China.
Abhishek ChakraborttyDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
Katherine P LiaoDivision of Rheumatology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Tianrun CaiDepartment of Radiology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Ashwin N AnanthakrishnanDivision of Gastroenterology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Vivian S GainerResearch IS and Computing, Partners HealthCare, Charlestown, Massachusetts, USA.
Susanne E ChurchillDepartment of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, USA.
Peter SzolovitsComputer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.
Shawn N MurphyResearch IS and Computing, Partners HealthCare, Charlestown, Massachusetts, USA.
Isaac S KohaneDepartment of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, USA.
Tianxi CaiDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.

Funding

TrainingU54HG007963 · NHGRI · HARVARD MEDICAL SCHOOL · PI KOHANE, ISAAC S., MURPHY, SHAWN N · 2014 to 2018
$18.3M
Research ProjectP50MH106933 · NIMH · HARVARD MEDICAL SCHOOL · PI KOHANE, ISAAC S. · 2014 to 2018
$17.0M
VERITY: Value and Evidence in Rheumatology using bioInformaTics, and advanced analYticsP30AR072577 · NIAMS · BRIGHAM AND WOMEN'S HOSPITAL · PI Daniel Hal Solomon · 2017 to 2026
$9.8M
NHGRI NIH HHS U54 HG007963NIAMS NIH HHS P30 AR072577NIMH NIH HHS P50 MH106933
6 · The paper itself

Abstract

objectivePhenotyping algorithms are capable of accurately identifying patients with specific phenotypes from within electronic medical records systems. However, developing phenotyping algorithms in a scalable way remains a challenge due to the extensive human resources required. This paper introduces a high-throughput unsupervised feature selection method, which improves the robustness and scalability of electronic medical record phenotyping without compromising its accuracy.

methodsThe proposed Surrogate-Assisted Feature Extraction (SAFE) method selects candidate features from a pool of comprehensive medical concepts found in publicly available knowledge sources. The target phenotype's International Classification of Diseases, Ninth Revision and natural language processing counts, acting as noisy surrogates to the gold-standard labels, are used to create silver-standard labels. Candidate features highly predictive of the silver-standard labels are selected as the final features.

resultsAlgorithms were trained to identify patients with coronary artery disease, rheumatoid arthritis, Crohn's disease, and ulcerative colitis using various numbers of labels to compare the performance of features selected by SAFE, a previously published automated feature extraction for phenotyping procedure, and domain experts. The out-of-sample area under the receiver operating characteristic curve and F -score from SAFE algorithms were remarkably higher than those from the other two, especially at small label sizes.

conclusionSAFE advances high-throughput phenotyping methods by automatically selecting a succinct set of informative features for algorithm training, which in turn reduces overfitting and the needed number of gold-standard labels. SAFE also potentially identifies important features missed by automated feature extraction for phenotyping or experts.

Indexed as

AlgorithmsData MiningElectronic Health RecordsHumansMachine LearningNatural Language ProcessingPhenotypedata miningelectronic medical recordsmachine learningphenotyping

Identifiers

PMID27632993
PMCPMC6080726

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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.