ABSTRACT
Early detection of breast cancer can be achieved through mutation detection in DNA sequences, which can be acquired through patient blood samples. Mutation detection can be performed using alignment and machine learning techniques. However, alignment techniques require reference sequences, and machine learning techniques still cannot predict index mutation and require supporting tools. Therefore, in this research, a Temporal Convolutional Network (TCN) model was proposed to detect the type and index mutation faster and without reference sequences and supporting tools. The architecture of the proposed TCN model is specifically designed for sequential labeling tasks on DNA sequence data. This allows for the detection of the mutation type of each nucleotide in the sequence, and if the nucleotide has a mutation, the index mutation can be obtained. The proposed model also uses 2-mers and 3-mers mapping techniques to improve detection performance. Based on the tests that have been carried out, the proposed TCN model can achieve the highest F1-score of 0.9443 for COSMIC dataset and 0.9629 for RSCM dataset, Additionally, the proposed TCN model can detect index mutation six times faster than BiLSTM model. Furthermore, the proposed model can detect type and index mutations based on the patient's DNA sequence, without the need for reference sequences or other additional tools.
