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Electronic patient records remain a rather unexplored, but potentially rich data source for discovering correlations between diseases. We describe a general approach for gathering phenotypic descriptions of patients from medical records in a systematic and non-cohort dependent manner. By extracting phenotype information from the free-text in such records we demonstrate that we can extend the information contained in the structured record data, and use it for producing fine-grained patient stratification and disease co-occurrence statistics. The approach uses a dictionary based on the International Classification of Disease ontology and is therefore in principle language independent. As a use case we show how records from a Danish psychiatric hospital lead to the identification of disease correlations, which subsequently can be mapped to systems biology frameworks.
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http://dx.doi.org/10.1371/journal.pcbi.1002141 | DOI Listing |
Pharmacotherapy
September 2025
Department of Biomedical Informatics, School of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Background: Omeprazole, a widely used proton pump inhibitor, has been associated with rare but serious adverse events such as myopathy. Previous research suggests that concurrent use of omeprazole with fluconazole, a potent cytochrome P450 (CYP) 2C19/3A4 inhibitor, may increase the risk of myopathy. However, the contribution of genetic polymorphisms in CYP enzymes remains unclear.
View Article and Find Full Text PDFGenet Med
September 2025
Division of Medical Genetics, University of Washington School of Medicine.
Purpose: The fourth phase of the Electronic Medical Records and Genome Network (eMERGE4) is testing the return of 10 polygenic risk scores (PRS) across multiple clinics. Understanding the perspectives of health-system leaders and frontline clinicians can inform plans for implementation of PRS.
Methods: Fifteen health-system leaders and 20 primary care providers (PCPs) took part in semi-structured interviews.
Zhong Nan Da Xue Xue Bao Yi Xue Ban
May 2025
Department of Geriatric Pulmonary and Critical Care Medicine, Xiangya Hospital, Central South University; National Clinical Research Center for Geriatric Disorders (Xiangya Hospital), Changsha 410008.
Objectives: Non-small cell lung cancer (NSCLC) is associated with poor prognosis, with 30% of patients diagnosed at an advanced stage. Mutations in the and genes are important prognostic factors for NSCLC, and targeted therapies can significantly improve survival in these patients. Although tissue biopsy remains the gold standard for detecting gene mutations, it has limitations, including invasiveness, sampling errors due to tumor heterogeneity, and poor reproducibility.
View Article and Find Full Text PDFJ Prim Care Community Health
September 2025
Division of Nephrology, Department of Medicine, National University Hospital, Singapore.
Background: Chronic kidney disease (CKD) management was largely centered around renin-angiotensin-aldosterone system inhibitors (RAASi) optimization, until recent emergence of novel therapeutics. However, slow adoption of guideline-directed therapy leaves patients vulnerable to disease progression. In 2022, a data-driven informatics approach was introduced to track real-time adherence to best practices.
View Article and Find Full Text PDFHematology
December 2025
Thalassaemia International Federation (TIF), Nicosia, Cyprus.
Objective: The complexity of β-thalassaemia with associated morbidity, lifelong daily expensive treatment, and multidisciplinary care results in a considerable disease burden. Our study aimed to revisit the β-thalassaemia burden using epidemiological, clinical, and financial indicators related to patients, families, and healthcare systems.
Methods: Patient density measures, transfusion indices, complication rates, universal health coverage, and other indicators were tabulated by country and region.