Yazar "Bakir-Gungor, Burcu" seçeneğine göre listele

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    Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
    (Springer Heidelberg, 2022) Dundar, Munis; Fahrioglu, Umut; Yildiz, Saliha Handan; Bakir-Gungor, Burcu; Temel, Sehime Gulsun; Akin, Haluk; Artan, Sevilhan
    Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease.
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    The Identification of Discriminative Single Nucleotide Polymorphism Sets for the Classification of Behcet's Disease
    (IEEE, 2018) Gormez, Yasin; Isik, Yunus Emre; Bakir-Gungor, Burcu
    Behcet's disease is a long-term multisystem inflammatory disorder, characterized by recurrent attacks affecting several organs. As the genotyping individuals get cheaper and easier following the developments in genomic technologies, genome-wide association studies (GWAS) emerged. By this means, via studying big-sized case-control groups for a specific disease, potential genetic variations, single nucleotide polymorphisms (SNPs) are identified. Although several genetic risk factors are identified for Behcet's disease with the help of these studies via scanning around a million of SNPs, these variations could only explain up to 200/u of the disease's genetic risk. In this study, for Behcet's disease classification, via comparing all the SNPs genotyped in GWAS, with the SNPs selected via using genetic knowledge, gain ratio and information gain; both reduction in the feature size and improvement in the classification accuracy is aimed. Also, using different classification algorithms such as random forest, k-nearest neighbour and logistic regression, their effects on the classification accuracy are investigated. Our results showed that compared to other feature selection methods, with at least 81% success rate, the selection of the SNPs using the genetic information (of their GWAS p-values, indicating the significance of the SNP against the disease) provides 15% to 42% improvement in all classification algorithms. This improvement is statistically sound. While gain ratio and information gain feature selection techniques yield similar classification accuracies, the models using all SNPs could not exceed 50% accuracies and results in the worst performance.
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    Multi fragment melting analysis system (MFMAS) for one-step identification of lactobacilli
    (Elsevier, 2020) Kesmen, Zulal; Kilic, Ozge; Gormez, Yasin; Celik, Mete; Bakir-Gungor, Burcu
    The accurate identification of lactobacilli is essential for the effective management of industrial practices associated with lactobacilli strains, such as the production of fermented foods or probiotic supplements. For this reason, in this study, we proposed the Multi Fragment Melting Analysis System (MFMAS)-lactobacilli based on high resolution melting (HRM) analysis of multiple DNA regions that have high interspecies heterogeneity for fast and reliable identification and characterization of lactobacilli. The MFMAS-lactobacilli is a new and customized version of the MFMAS, which was developed by our research group. MFMAS-lactobacilli is a combined system that consists of i) a ready-to-use plate, which is designed for multiple HRM analysis, and ii) a data analysis software, which is used to characterize lactobacilli species via incorporating machine learning techniques. Simultaneous HRM analysis of multiple DNA fragments yields a fingerprint for each tested strain and the identification is performed by comparing the fingerprints of unknown strains with those of known lactobacilli species registered in the MFMAS. In this study, a total of 254 isolates, which were recovered from fermented foods and probiotic supplements, were subjected to MFMAS analysis, and the results were confirmed by a combination of different molecular techniques. All of the analyzed isolates were exactly differentiated and accurately identified by applying the single-step procedure of MFMAS, and it was determined that all of the tested isolates belonged to 18 different lactobacilli species. The individual analysis of each target DNA region provided identification with an accuracy range from 59% to 90% for all tested isolates. However, when each target DNA region was analyzed simultaneously, perfect discrimination and 100% accurate identification were obtained even in closely related species. As a result, it was concluded that MFMAS-lactobacilli is a multi-purpose method that can be used to differentiate, classify, and identify lactobacilli species. Hence, our proposed system could be a potential alternative to overcome the inconsistencies and difficulties of the current methods.
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    The Determination of Distinctive Single Nucleotide Polymorphism Sets for the Diagnosis of Behcet's Disease
    (IEEE Computer Soc, 2022) Isik, Yunus Emre; Gormez, Yasin; Aydin, Zafer; Bakir-Gungor, Burcu
    Behcet'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.