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    Cancer Metastasis Prediction and Genomic Biomarker Identification through Machine Learning and eXplainable Artificial Intelligence in Breast Cancer Research
    (Mdpi, 2023) Yagin, Burak; Yagin, Fatma Hilal; Colak, Cemil; Inceoglu, Feyza; Kadry, Seifedine; Kim, Jungeun
    Aim: Method: This research presents a model combining machine learning (ML) techniques and eXplainable artificial intelligence (XAI) to predict breast cancer (BC) metastasis and reveal important genomic biomarkers in metastasis patients. Method: A total of 98 primary BC samples was analyzed, comprising 34 samples from patients who developed distant metastases within a 5-year follow-up period and 44 samples from patients who remained disease-free for at least 5 years after diagnosis. Genomic data were then subjected to biostatistical analysis, followed by the application of the elastic net feature selection method. This technique identified a restricted number of genomic biomarkers associated with BC metastasis. A light gradient boosting machine (LightGBM), categorical boosting (CatBoost), Extreme Gradient Boosting (XGBoost), Gradient Boosting Trees (GBT), and Ada boosting (AdaBoost) algorithms were utilized for prediction. To assess the models' predictive abilities, the accuracy, F1 score, precision, recall, area under the ROC curve (AUC), and Brier score were calculated as performance evaluation metrics. To promote interpretability and overcome the black box problem of ML models, a SHapley Additive exPlanations (SHAP) method was employed. Results: The LightGBM model outperformed other models, yielding remarkable accuracy of 96% and an AUC of 99.3%. In addition to biostatistical evaluation, in XAI-based SHAP results, increased expression levels of TSPYL5, ATP5E, CA9, NUP210, SLC37A1, ARIH1, PSMD7, UBQLN1, PRAME, and UBE2T (p <= 0.05) were found to be associated with an increased incidence of BC metastasis. Finally, decreased levels of expression of CACTIN, TGFB3, SCUBE2, ARL4D, OR1F1, ALDH4A1, PHF1, and CROCC (p <= 0.05) genes were also determined to increase the risk of metastasis in BC. Conclusion: The findings of this study may prevent disease progression and metastases and potentially improve clinical outcomes by recommending customized treatment approaches for BC patients.
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    A proposed tree-based explainable artificial intelligence approach for the prediction of angina pectoris
    (Nature Portfolio, 2023) Guldogan, Emek; Yagin, Fatma Hilal; Pinar, Abdulvahap; Colak, Cemil; Kadry, Seifedine; Kim, Jungeun
    Cardiovascular diseases (CVDs) are a serious public health issue that affects and is responsible for numerous fatalities and impairments. Ischemic heart disease (IHD) is one of the most prevalent and deadliest types of CVDs and is responsible for 45% of all CVD-related fatalities. IHD occurs when the blood supply to the heart is reduced due to narrowed or blocked arteries, which causes angina pectoris (AP) chest pain. AP is a common symptom of IHD and can indicate a higher risk of heart attack or sudden cardiac death. Therefore, it is important to diagnose and treat AP promptly and effectively. To forecast AP in women, we constructed a novel artificial intelligence (AI) method employing the tree-based algorithm known as an Explainable Boosting Machine (EBM). EBM is a machine learning (ML) technique that combines the interpretability of linear models with the flexibility and accuracy of gradient boosting. We applied EBM to a dataset of 200 female patients, 100 with AP and 100 without AP, and extracted the most relevant features for AP prediction. We then evaluated the performance of EBM against other AI methods, such as Logistic Regression (LR), Categorical Boosting (CatBoost), eXtreme Gradient Boosting (XGBoost), Adaptive Boosting (AdaBoost), and Light Gradient Boosting Machine (LightGBM). We found that EBM was the most accurate and well-balanced technique for forecasting AP, with accuracy (0.925) and Youden's index (0.960). We also looked at the global and local explanations provided by EBM to better understand how each feature affected the prediction and how each patient was classified. Our research showed that EBM is a useful AI method for predicting AP in women and identifying the risk factors related to it. This can help clinicians to provide personalized and evidence-based care for female patients with AP.