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Background Selecting and prioritizing candidate disease genes is necessary before conducting laboratory studies as identifying disease genes from a large number of candidate genes using laboratory methods, is a very costly and time-consuming task. There are many machine learning-based gene prioritization methods. These methods differ in various aspects including the feature vectors of genes, the used datasets with different structures, and the learning model. Creating a suitable feature vector for genes and an appropriate learning model on a variety of data with different and non-Euclidean structures, including graphs, as well as the lack of negative data are very important challenges of these methods. The use of graph neural networks has recently emerged in machine learning and other related fields, and they have demonstrated superior performance for a broad range of problems. Methods In this study, a new semi-supervised learning method based on graph convolutional networks is presented using the novel constructing feature vector for each gene. In the proposed method, first, we construct three feature vectors for each gene using terms from the Gene Ontology (GO) database. Then, we train a graph convolution network on these vectors using protein–protein interaction (PPI) network data to identify disease candidate genes. Our model discovers hidden layer representations encoding in both local graph structure as well as features of nodes. This method is characterized by the simultaneous consideration of topological information of the biological network (e.g., PPI) and other sources of evidence. Finally, a validation has been done to demonstrate the efficiency of our method. Results Several experiments are performed on 16 diseases to evaluate the proposed method's performance. The experiments demonstrate that our proposed method achieves the best results, in terms of precision, the area under the ROC curve (AUCs), and F1-score values, when compared with eight state-of-the-art network and machine learning-based disease gene prioritization methods. Conclusion This study shows that the proposed semi-supervised learning method appropriately classifies and ranks candidate disease genes using a graph convolutional network and an innovative method to create three feature vectors for genes based on the molecular function, cellular component, and biological process terms from GO data.

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Background Gene expression data play an important role in bioinformatics applications. Although there may be a large number of features in such data, they mainly tend to contain only a few samples. This can negatively impact the performance of data mining and machine learning algorithms. One of the most effective approaches to alleviate this problem is to use gene selection methods. The aim of gene selection is to reduce the dimensions (features) of gene expression data leading to eliminating irrelevant and redundant genes. Methods This paper presents a hybrid gene selection method based on graph theory and a many-objective particle swarm optimization (PSO) algorithm. To this end, a filter method is first utilized to reduce the initial space of the genes. Then, the gene space is represented as a graph to apply a graph clustering method to group the genes into several clusters. Moreover, the many-objective PSO algorithm is utilized to search an optimal subset of genes according to several criteria, which include classification error, node centrality, specificity, edge centrality, and the number of selected genes. A repair operator is proposed to cover the whole space of the genes and ensure that at least one gene is selected from each cluster. This leads to an increasement in the diversity of the selected genes. Results To evaluate the performance of the proposed method, extensive experiments are conducted based on seven datasets and two evaluation measures. In addition, three classifiers—Decision Tree (DT), Support Vector Machine (SVM), and K-Nearest Neighbors (KNN)—are utilized to compare the effectiveness of the proposed gene selection method with other state-of-the-art methods. The results of these experiments demonstrate that our proposed method not only achieves more accurate classification, but also selects fewer genes than other methods. Conclusion This study shows that the proposed multi-objective PSO algorithm simultaneously removes irrelevant and redundant features using several different criteria. Also, the use of the clustering algorithm and the repair operator has improved the performance of the proposed method by covering the whole space of the problem.