Genetik ve enfeksiyon hastalıklarının tespiti için makine öğrenmesi yöntemleri

Completion of the whole human genome in the 2003 has led to various advances in many fields, particularly in biology, genetics, health sciences, treatment, and pharmacology. In the following years, spread of faster and cheaper sequencing technologies has enabled us to extract and analyze genetic profiles of individuals digitally. Consequently, individual-specific forecasting and personalized treatment and precision medicine-, what once seemed like science fiction, have become more and more real. In both approaches, one of the crucial steps is identifying the presence of diseases using individual-specific genetic data. This thesis aims to comprehensively and comparatively evaluate the predictive performance of machine learning methods for Behçet's disease and respiratory infections. Additionally, feature selection methods were employed to identify the genetic factors (such as SNPs and genes) associated with disease presence for both diseases. Furthermore, the usability of selected features depending on biological pathway-driven active subnetworks listed in the literature was analyzed for the prediction of Behçet's disease. For the respiratory infection prediction problem, on the other hand, the prediction performance of features calculated by single-sample gene set enrichment analysis (ssGSEA) was evaluated using different machine learning methods. As the data types used in both experiments were different (genome-wide association studies data, gene expression profiles), the performance of machine learning approaches on different data types was also observed. It is hoped that the findings of both experiments will contribute to future machine learning based disease prediction studies.