Scopus İndeksli Yayınlar Koleksiyonu
Permanent URI for this collectionhttps://hdl.handle.net/20.500.12573/395
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Article Time Distributed Classification of Alzheimer’s Disease on MRI Scans(John Wiley and Sons Ltd, 2026) Dundar, Mehmet Sait; Yilmaz, BulentThe diagnosis of Alzheimer's disease (AD) has progressively depended on sophisticated neuroimaging methods alongside cognitive assessments. This study combines volumetric feature analysis with computational modeling techniques, focusing on spatial and temporal analysis, to categorize individuals as cognitively normal (CN), mild cognitive impairment (MCI), or AD using magnetic resonance imaging (MRI) data. In the initial phase, volumetric changes, comprising cortical thickness, white matter, grey matter, cerebrospinal fluid, and total intracranial volume, were derived from the Alzheimer's Disease Neuroimaging Initiative (ADNI) dataset utilizing the CAT12 toolbox in statistical parametric mapping (SPM). Linear regression was utilized on these variables over time to create slopes that reflect volumetric change rates, which then served as inputs for machine learning classifiers. The slopes of cortical thickness exhibited the greatest classification accuracy, reaching 82.5% with a random forest model for differentiating AD from CN individuals. During the second phase, a deep learning methodology was utilized, relying solely on the MRI scans and excluding the outcomes from the first phase. A pre-trained 3D ResNet-101 convolutional neural network (CNN) model extracted spatial characteristics from MRI volumes, whereas long short-term memory (LSTM) networks recorded temporal dynamics across subsequent annual scans. This hybrid CNN-LSTM design markedly improved classification performance, attaining 96.7% accuracy for AD against CN and enhancing the distinction of MCI cases. Nonetheless, discrepancies in MCI categorization were chiefly ascribed to the restricted access to annual MRI data and the model's pre-training on CN and AD cohorts. These findings highlight the potential of integrating volumetric statistical analysis with deep learning for automated AD categorization. This work enhances neuroimaging diagnostic methods by utilizing both spatial and temporal MRI data, enabling early diagnosis and better evaluation of disease development.Article Citation - WoS: 9Citation - Scopus: 13The Impact and Future of Artificial Intelligence in Medical Genetics and Molecular Medicine: An Ongoing Revolution(Springer Heidelberg, 2024-08) Ozcelik, Firat; Dundar, Mehmet Sait; Yildirim, A. Baki; Henehan, Gary; Vicente, Oscar; Sanchez-Alcazar, Jose A.; Dundar, MunisArtificial intelligence (AI) platforms have emerged as pivotal tools in genetics and molecular medicine, as in many other fields. The growth in patient data, identification of new diseases and phenotypes, discovery of new intracellular pathways, availability of greater sets of omics data, and the need to continuously analyse them have led to the development of new AI platforms. AI continues to weave its way into the fabric of genetics with the potential to unlock new discoveries and enhance patient care. This technology is setting the stage for breakthroughs across various domains, including dysmorphology, rare hereditary diseases, cancers, clinical microbiomics, the investigation of zoonotic diseases, omics studies in all medical disciplines. AI's role in facilitating a deeper understanding of these areas heralds a new era of personalised medicine, where treatments and diagnoses are tailored to the individual's molecular features, offering a more precise approach to combating genetic or acquired disorders. The significance of these AI platforms is growing as they assist healthcare professionals in the diagnostic and treatment processes, marking a pivotal shift towards more informed, efficient, and effective medical practice. In this review, we will explore the range of AI tools available and show how they have become vital in various sectors of genomic research supporting clinical decisions.Article Citation - WoS: 6Citation - Scopus: 7Genetic Variants in Genes Correlated to the PI3K/AKT Pathway: The Role of ARAP3, CDH5, KIF and RELN Primary Lymphedema(International Society of Lymphology, 2024-08-28) Dundar, Mehmet Sait; Belanová, I.; Bonetti, Gabriele; Gelanová, V.; Kozáčiková, R.; Vešelényiová, Dominika; Donato, Kevin; Michelini, S.Genetic anomalies affecting lymphatic development and function can lead to lymphatic dysfunction, which could manifest as lymphedema- Understanding the signaling pathways governing lymphatics function is crucial for developing targeted diagnostic and therapeutic interventions. This study aims to characterize genetic variants in genes involved in the PUKIAKT signaling pathway, which plays a critical role in lymphangiogenesis. 408 patients diagnosed with primary lymphedema were sequenced usinga next-generation sequencing (NGS) gene panel composed of 28 diagnostic genes and 71 candidate genes. The analysis revealed six variants in genes RFLN, ARAP3,CDHS and K1F11. Five of these variants have never been reported in the literature. All these genes have been correlated to lymphatic activity and are involved in the P13K/AKT pathway. As the P13K/AKT signaling pathway plays an essential role in lymphangiogenesis and lymphatic function, genetic variants in genes correlated to this pathway could lead to lymphedema. Our findings underscore the potential of the P13K/AKT pathway in lymphedema pathogenesis, supporting the role of RELN,ARAP3,CDH5,and KIF11 as diagnostic and therapeutic targets. © 2024 Elsevier B.V., All rights reserved.Article Citation - WoS: 6Citation - Scopus: 9BRCA Variations Risk Assessment in Breast Cancers Using Different Artificial Intelligence Models(MDPI, 2021-11-09) Senturk, Niyazi; Tuncel, Gulten; Dogan, Berkcan; Aliyeva, Lamiya; Dundar, Mehmet Sait; Ozemri Sag, Sebnem; Ergoren, Mahmut Cerkez; Sag, Sebnem OzemriArtificial intelligence provides modelling on machines by simulating the human brain using learning and decision-making abilities. Early diagnosis is highly effective in reducing mortality in cancer. This study aimed to combine cancer-associated risk factors including genetic variations and design an artificial intelligence system for risk assessment. Data from a total of 268 breast cancer patients have been analysed for 16 different risk factors including genetic variant classifications. In total, 61 BRCA1, 128 BRCA2 and 11 both BRCA1 and BRCA2 genes associated breast cancer patients' data were used to train the system using Mamdani's Fuzzy Inference Method and Feed-Forward Neural Network Method as the model softwares on MATLAB. Sixteen different tests were performed on twelve different subjects who had not been introduced to the system before. The rates for neural network were 99.9% for training success, 99.6% for validation success and 99.7% for test success. Despite neural network's overall success was slightly higher than fuzzy logic accuracy, the results from developed systems were similar (99.9% and 95.5%, respectively). The developed models make predictions from a wider perspective using more risk factors including genetic variation data compared with similar studies in the literature. Overall, this artificial intelligence models present promising results for BRCA variations' risk assessment in breast cancers as well as a unique tool for personalized medicine software.Article Citation - Scopus: 1Alzheimer Disease Associated Loci: APOE Single Nucleotide Polymorphisms in Marmara Region(MDPI, 2024-04-27) Ismail, Aya Badeea; Dundar, Mehmet Sait; Erguzeloglu, Cemre Ornek; Ergoren, Mahmut Cerkez; Alemdar, Adem; Sag, Sebnem Ozemri; Temel, Sehime Gulsun; Ozemri Sag, SebnemAlzheimer's disease (AD) is a major global health challenge, especially among individuals aged 65 or older. According to population health studies, Turkey has the highest AD prevalence in the Middle East and Europe. To accurately determine the frequencies of common and rare APOE single nucleotide polymorphisms (SNPs) in the Turkish population residing in the Marmara Region, we conducted a retrospective study analyzing APOE variants in 588 individuals referred to the Bursa Uludag University Genetic Diseases Evaluation Center. Molecular genotyping, clinical exome sequencing, bioinformatics analysis, and statistical evaluation were employed to identify APOE polymorphisms and assess their distribution. The study revealed the frequencies of APOE alleles as follows: epsilon 4 at 9.94%, epsilon 2 at 9.18%, and epsilon 3 at 80.68%. The gender-based analysis in our study uncovered a tendency for females to exhibit a higher prevalence of mutant genotypes across various SNPs. The most prevalent haplotype observed was epsilon 3/epsilon 3, while rare APOE SNPs were also identified. These findings align with global observations, underscoring the significance of genetic diversity and gender-specific characteristics in comprehending health disparities and formulating preventive strategies.