Evidence map›Paper›PMID 30738949›Full record

ArticleJournal of biomedical informatics2019

Feature extraction for phenotyping from semantic and knowledge resources.

Wenxin Ning, Stephanie Chan, Andrew Beam, Ming Yu, Alon Geva, Katherine Liao, Mary Mullen, Kenneth D Mandl, Isaac Kohane, Tianxi Cai and 1 more

Abstract read
In one paragraph

Article in Journal of biomedical informatics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

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

  1. Pooled it
  2. Article
  3. Article
  4. Biomedical literature-based clinical phenotype definition discovery using large language models.Database : the journal of biological databases and curation · 2025
    Article
  5. Machine learning approaches for electronic health records phenotyping: a methodical review.Journal of the American Medical Informatics Association : JAMIA · 2023
    Article
  6. Review
  7. Article
  8. High-throughput phenotyping with temporal sequences.Journal of the American Medical Informatics Association : JAMIA · 2021
    Article
  9. Article
  10. Generative transfer learning for measuring plausibility of EHR diagnosis records.Journal of the American Medical Informatics Association : JAMIA · 2021
    Article
  11. Article
  12. Automated ICD coding via unsupervised knowledge integration (UNITE).International journal of medical informatics · 2020
    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.

Wenxin NingDepartment of Industrial Engineering, Tsinghua University, Beijing, China.
Stephanie ChanDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Andrew BeamDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
Ming YuDepartment of Industrial Engineering, Tsinghua University, Beijing, China.
Alon GevaComputational Health Informatics Program, Boston Children's Hospital, Boston, MA, USA; Department of Anesthesiology, Critical Care, and Pain Medicine, Boston Children's Hospital, Boston, MA, USA; Department of Anesthesia, Harvard Medical School, Boston, MA, USA.
Katherine LiaoDepartment of Medicine, Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Boston, MA, USA; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
Mary MullenDepartment of Cardiology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Kenneth D MandlComputational Health Informatics Program, Boston Children's Hospital, Boston, MA, USA; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
Isaac KohaneDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
Tianxi CaiDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
Sheng YuCenter for Statistical Science, Tsinghua University, Beijing, China; Department of Industrial Engineering, Tsinghua University, Beijing, China; Institute for Data Science, Tsinghua University, Beijing, China. Electronic address: syu@tsinghua.edu.cn.

Funding

TrainingU54HG007963 · NHGRI · HARVARD MEDICAL SCHOOL · PI KOHANE, ISAAC S., MURPHY, SHAWN N · 2014 to 2018
$18.3M
Pediatric Critical Care Scientist Development ProgramK12HD047349 · NICHD · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI HEATHER T. KEENAN, Kevin M Watt · 2004 to 2026
$17.0M
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
Data Fusion: A Sustainable, Scalable, Open Source Registry Advancing PVD ResearchU01HL121518 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI ABMAN, STEVEN HERBERT, MANDL, KENNETH D. · 2014 to 2018
$9.3M
RESEARCH TRAINING IN PEDIATRIC EMERGENCY MEDICINET32HD040128 · NICHD · CHILDREN'S HOSPITAL BOSTON · PI Kenneth D. Mandl · 2001 to 2026
$5.0M
Genetic predictors of anti-TNF treatment response and infections in IBDK23DK097142 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI ANANTHAKRISHNAN, ASHWIN N · 2012 to 2016
$846k
Genetic Risk Factors for Coronary Artery Disease in Rheumatoid ArthritisK08AR060257 · NIAMS · BRIGHAM AND WOMEN'S HOSPITAL · PI LIAO, KATHERINE PHOENIX · 2011 to 2015
$649k
NHGRI NIH HHS U54 HG007963NHLBI NIH HHS L40 HL133929NHLBI NIH HHS U01 HL121518NIAMS NIH HHS K08 AR060257NIAMS NIH HHS P30 AR072577NICHD NIH HHS K12 HD047349NICHD NIH HHS T32 HD040128NIDDK NIH HHS K23 DK097142NIMH NIH HHS P50 MH106933
6 · The paper itself

Abstract

objectivePhenotyping algorithms can efficiently and accurately identify patients with a specific disease phenotype and construct electronic health records (EHR)-based cohorts for subsequent clinical or genomic studies. Previous studies have introduced unsupervised EHR-based feature selection methods that yielded algorithms with high accuracy. However, those selection methods still require expert intervention to tweak the parameter settings according to the EHR data distribution for each phenotype. To further accelerate the development of phenotyping algorithms, we propose a fully automated and robust unsupervised feature selection method that leverages only publicly available medical knowledge sources, instead of EHR data.

methodsSEmantics-Driven Feature Extraction (SEDFE) collects medical concepts from online knowledge sources as candidate features and gives them vector-form distributional semantic representations derived with neural word embedding and the Unified Medical Language System Metathesaurus. A number of features that are semantically closest and that sufficiently characterize the target phenotype are determined by a linear decomposition criterion and are selected for the final classification algorithm.

resultsSEDFE was compared with the EHR-based SAFE algorithm and domain experts on feature selection for the classification of five phenotypes including coronary artery disease, rheumatoid arthritis, Crohn's disease, ulcerative colitis, and pediatric pulmonary arterial hypertension using both supervised and unsupervised approaches. Algorithms yielded by SEDFE achieved comparable accuracy to those yielded by SAFE and expert-curated features. SEDFE is also robust to the input semantic vectors.

conclusionSEDFE attains satisfying performance in unsupervised feature selection for EHR phenotyping. Both fully automated and EHR-independent, this method promises efficiency and accuracy in developing algorithms for high-throughput phenotyping.

Indexed as

Electronic Health RecordsPhenotypeSemanticsAlgorithmsHumansDistributional semanticsElectronic health recordsMachine learningPhenotyping

Identifiers

PMID30738949
PMCPMC6424621

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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.