A Study on the Prediction of Cancer Using Whole-Genome Data and Deep Learning

The number of patients diagnosed with cancer continues to increasingly rise, and has nearly doubled in 20 years. Therefore, predicting cancer occurrence has a significant impact on reducing medical costs, and preventing cancer early can increase survival rates. In the data preprocessing step, since individual genome data are used as input data, they are classified as individual genome data. Subsequently, data embedding is performed in character units, so that it can be used in deep learning. In the deep learning network schema, using preprocessed data, a character-based deep learning network learns the correlation between individual feature data and predicts cancer occurrence. To evaluate the objective reliability of the method proposed in this study, various networks published in other studies were compared and evaluated using the TCGA dataset. As a result of comparing various networks published in other studies using the same data, excellent results were obtained in terms of accuracy, sensitivity, and specificity. Thus, the superiority of the effectiveness of deep learning networks in predicting cancer occurrence using individual whole-genome data was demonstrated. From the results of the confusion matrix, the validity of the model for predicting the cancer using an individual’s whole-genome data and the deep learning proposed in this study was proven. In addition, the AUC, which is the area under the ROC curve, which judges the efficiency of diagnosis as a performance evaluation index of the model, was found to be 90% or more, good classification results were derived. The objectives of this study were to use individual genome data for 12 cancers as input data to analyze the whole genome pattern, and to not separately use reference genome sequence data of normal individuals. In addition, several mutation types, including SNV, DEL, and INS, were applied.