PubMed İndeksli Yayınlar Koleksiyonu

Permanent URI for this collectionhttps://hdl.handle.net/20.500.12573/397

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  • Article
    Leveraging Clinical Data for Early Heart Disease Prediction: A Machine Learning Approach With Interpretability Analysis
    (SAGE Publications Ltd, 2026) Qumsiyeh, Emma; Al-Wirdian, Qassam; Ersoz, Nur Sebnem
    Background: Heart disease remains one of the leading causes of mortality worldwide, highlighting the need for early and accurate diagnosis to support effective prevention and treatment strategies. Methods: This study presents a machine-learning-based approach for predicting heart disease using clinical and demographic data from a publicly available dataset. Four widely used classification algorithms-Logistic Regression, Random Forest, K-Nearest Neighbors (KNN), and Decision Trees-were evaluated to identify the most effective predictive model. The dataset underwent comprehensive preprocessing, including handling missing values, categorical encoding, and feature normalization, to enhance data quality and model robustness. Model performance was assessed using accuracy, precision, recall, and AUC-ROC metrics. Results: Findings show that hyperparameter-optimized models, particularly Random Forest and KNN, demonstrated strong predictive performance. Explainability techniques, specifically SHapley Additive exPlanations (SHAP), were incorporated to improve interpretability, transparency, and clinical trust. SHAP values were used to analyze feature importance and provide explanations for individual predictions. Conclusion: The results underscore the potential of interpretable machine-learning models as valuable tools for early diagnosis, risk stratification, and clinical decision support. Future research should employ larger datasets and investigate real-time predictive applications further to enhance the generalizability and clinical utility of these models.
  • Article
    Citation - WoS: 16
    Citation - Scopus: 21
    GeNetOntology: Identifying Affected Gene Ontology Terms via Grouping, Scoring, and Modeling of Gene Expression Data Utilizing Biological Knowledge-Based Machine Learning
    (Frontiers Media S.A., 2023-08-21) Ersoz, Nur Sebnem; Bakir-Gungor, Burcu; Yousef, Malik
    Introduction: Identifying significant sets of genes that are up/downregulated under specific conditions is vital to understand disease development mechanisms at the molecular level. Along this line, in order to analyze transcriptomic data, several computational feature selection (i.e., gene selection) methods have been proposed. On the other hand, uncovering the core functions of the selected genes provides a deep understanding of diseases. In order to address this problem, biological domain knowledge-based feature selection methods have been proposed. Unlike computational gene selection approaches, these domain knowledge-based methods take the underlying biology into account and integrate knowledge from external biological resources. Gene Ontology (GO) is one such biological resource that provides ontology terms for defining the molecular function, cellular component, and biological process of the gene product.Methods: In this study, we developed a tool named GeNetOntology which performs GO-based feature selection for gene expression data analysis. In the proposed approach, the process of Grouping, Scoring, and Modeling (G-S-M) is used to identify significant GO terms. GO information has been used as the grouping information, which has been embedded into a machine learning (ML) algorithm to select informative ontology terms. The genes annotated with the selected ontology terms have been used in the training part to carry out the classification task of the ML model. The output is an important set of ontologies for the two-class classification task applied to gene expression data for a given phenotype.Results: Our approach has been tested on 11 different gene expression datasets, and the results showed that GeNetOntology successfully identified important disease-related ontology terms to be used in the classification model.Discussion: GeNetOntology will assist geneticists and scientists to identify a range of disease-related genes and ontologies in transcriptomic data analysis, and it will also help doctors design diagnosis platforms and improve patient treatment plans.