ArticleJournal of the American Medical Informatics Association : JAMIA
Leveraging informatics for genetic studies: use of the electronic medical record to enable a genome-wide association study of peripheral arterial disease.
Article in Journal of the American Medical Informatics Association : JAMIA. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03427489 (A Biorepository for Discovering Novel Biochemical and Genetic Markers of Coronary Heart Disease in Qatar), which is not on this map. Cited by 103 papers, 2 of them syntheses that pooled it.
What it found
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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.
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.
A Biorepository for Discovering Novel Biochemical and Genetic Markers of Coronary Heart Disease in Qatar (QCBio)
Who cites it
103 citing papers in PubMed, 2 syntheses or guidelines pooled it, 141 citations in OpenAlex.
- Identifying abdominal aortic aneurysm size and presence using Natural Language Processing of radiology reports: a systematic review and meta-analysis.Abdominal radiology (New York) · 2025Pooled it
- An autism case history to review the systematic analysis of large-scale data to refine the diagnosis and treatment of neuropsychiatric disorders.Biological psychiatry · 2015Pooled it
- Evaluating Large Language Models in Extracting Cognitive Exam Dates and Scores.medRxiv : the preprint server for health sciences · 2024Article
- Evaluation of the portability of computable phenotypes with natural language processing in the eMERGE network.Scientific reports · 2023Article
- Performance and usability testing of an automated tool for detection of peripheral artery disease using electronic health records.Scientific reports · 2022Article
- Genome-Wide Association Study of Peripheral Artery Disease.Circulation. Genomic and precision medicine · 2021Article
- Coronary Heart Disease Risk Associated with Primary Isolated Hypertriglyceridemia; a Population-Based Study.Journal of the American Heart Association · 2021Article
- Loci identified by a genome-wide association study of carotid artery stenosis in the eMERGE network.Genetic epidemiology · 2021Article
- Model-Based Algorithms for Detecting Peripheral Artery Disease Using Administrative Data From an Electronic Health Record Data System: Algorithm Development Study.JMIR medical informatics · 2020Article
- Making work visible for electronic phenotype implementation: Lessons learned from the eMERGE network.Journal of biomedical informatics · 2019Article
- The Accuracy of Diagnostic Codes in Electronic Medical Records in Japan.Journal of medical systems · 2019Article
- Natural Language Processing of Clinical Notes on Chronic Diseases: Systematic Review.JMIR medical informatics · 2019Review
- GWAS and Beyond: Using Omics Approaches to Interpret SNP Associations.Current genetic medicine reports · 2019Article
- Comorbidity Characterization Among eMERGE Institutions: A Pilot Evaluation with the Johns Hopkins Adjusted Clinical Groups® System.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2019Article
- Association of Ankle-Brachial Indices With Limb Revascularization or Amputation in Patients With Peripheral Artery Disease.JAMA network open · 2018Observational
- Clinical Natural Language Processing in languages other than English: opportunities and challenges.Journal of biomedical semantics · 2018Review
- Clinical documentation variations and NLP system portability: a case study in asthma birth cohorts across institutions.Journal of the American Medical Informatics Association : JAMIA · 2018Article
- Burden of hospitalization in clinically diagnosed peripheral artery disease: A community-based study.Vascular medicine (London, England) · 2018Article
- A Network-Biology Informed Computational Drug Repositioning Strategy to Target Disease Risk Trajectories and Comorbidities of Peripheral Artery Disease.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2018Article
- Clinical information extraction applications: A literature review.Journal of biomedical informatics · 2018Review
43 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
backgroundThere is significant interest in leveraging the electronic medical record (EMR) to conduct genome-wide association studies (GWAS).
methodsA biorepository of DNA and plasma was created by recruiting patients referred for non-invasive lower extremity arterial evaluation or stress ECG. Peripheral arterial disease (PAD) was defined as a resting/post-exercise ankle-brachial index (ABI) less than or equal to 0.9, a history of lower extremity revascularization, or having poorly compressible leg arteries. Controls were patients without evidence of PAD. Demographic data and laboratory values were extracted from the EMR. Medication use and smoking status were established by natural language processing of clinical notes. Other risk factors and comorbidities were ascertained based on ICD-9-CM codes, medication use and laboratory data.
resultsOf 1802 patients with an abnormal ABI, 115 had non-atherosclerotic vascular disease such as vasculitis, Buerger's disease, trauma and embolism (phenocopies) based on ICD-9-CM diagnosis codes and were excluded. The PAD cases (66+/-11 years, 64% men) were older than controls (61+/-8 years, 60% men) but had similar geographical distribution and ethnic composition. Among PAD cases, 1444 (85.6%) had an abnormal ABI, 233 (13.8%) had poorly compressible arteries and 10 (0.6%) had a history of lower extremity revascularization. In a random sample of 95 cases and 100 controls, risk factors and comorbidities ascertained from EMR-based algorithms had good concordance compared with manual record review; the precision ranged from 67% to 100% and recall from 84% to 100%.
conclusionThis study demonstrates use of the EMR to ascertain phenocopies, phenotype heterogeneity and relevant covariates to enable a GWAS of PAD. Biorepositories linked to EMR may provide a relatively efficient means of conducting GWAS.
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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.