Scopus İndeksli Yayınlar Koleksiyonu
Permanent URI for this collectionhttps://hdl.handle.net/20.500.12573/395
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Article Predicting Respiratory Infection and Symptoms Development Using Gene Set Enrichment Scores and Machine Learning(Elsevier Sci Ltd, 2026) Aydin, Zafer; Isik, Yunus EmreRecent advancements in precision medicine enable personalized predictions grounded in individual-level genetic data. However, relying solely on a single type of data can decrease prediction accuracy and limit the biological interpretability of the resulting models. Incorporating predefined genetic knowledge, such as derived gene sets, can improve performance and provide deeper biological insights for complex diseases, including respiratory infections. This study aimed to evaluate the usability of enrichment scores (ES), calculated using gene sets from the Molecular Signatures Database (MSigDB), as a feature representation for machine learning models to predict respiratory viral infections and symptom development. In addition, the proposed feature representation approach was extensively compared with the de facto gene-level expression representation. A total of 36,834 predefined gene sets were compiled from the MSigDB, and their ES values were calculated. Experiments used the GSE73072 dataset from Gene Expression Omnibus, containing gene expression profiles before and after virus exposure. Various machine learning and feature selection algorithms were applied to ES-based and probe-level feature sets. The results showed that both feature representation approaches achieved an area under the precision-recall curve (AUPRC) value greater than 0.90 for all tasks. Compared with the Respiratory Viral DREAM Challenge leaderboard phase, our models showed a 14.8% improvement in pre-exposure predictions (T0) and a 17.4% improvement in symptom classification. Using enrichment scores as a feature representation generally resulted in better performance than probe-level representation when predicting respiratory infections and symptom development. Identifying key gene sets through feature selection and comparing them with essential genes for respiratory viruses enabled a more comprehensive analysis, providing deeper insights into the pathways that contribute to these predictions.Article Citation - WoS: 7Citation - Scopus: 8The Determination of Distinctive Single Nucleotide Polymorphism Sets for the Diagnosis of Behcet's Disease(IEEE Computer Soc, 2022-05-01) Isik, Yunus Emre; Gormez, Yasin; Aydin, Zafer; Bakir-Gungor, BurcuBehcet's Disease (BD) is a multi-system inflammatory disorder in which the etiology remains unclear. The most probable hypothesis is that genetic tendency and environmental factors play roles in the development of BD. In order to find the essential reasons, genetic changes on thousands of genes should be analyzed. Besides, there is a need for extra analysis to find out which genetic factor affects the disease. Machine learning approaches have high potential for extracting the knowledge from genomics and selecting the representative Single Nucleotide Polymorphisms (SNPs) as the most effective features for the clinical diagnosis process. In this study, we have attempted to identify representative SNPs using feature selection methods, incorporating biological information and aimed to develop a machine-learning model for diagnosing Behcet's disease. By combining biological information and machine learning classifiers, up to 99.64 percent accuracy of disease prediction is achieved using only 13,611 out of 311,459 SNPs. In addition, we revealed the SNPs that are most distinctive by performing repeated feature selection in cross-validation experiments.