Abstract

Chromosomes are thread-like structures located in the cell nucleus that contains the human body blueprint. Chromosome analysis is also known as karyotyping is the test taken to detect the abnormalities identified in the human chromosome. The two types of widely known chromosome abnormalities are structural and numerical abnormalities. Manual karyotyping is complex, time-consuming, and error-prone. To overcome these complexities, automated chromosome karyotype architecture is proposed using the deep convolutional neural network (DCNN) architecture. Training the DCNN architecture from scratch needs a huge dataset and to overcome this problem a generative adversarial networks is used to create adversarial samples that resemble the images in the actual dataset. The time-consuming hyperparameter tuning in the DCNN architecture is overcome using the hybrid moth-flame optimization integrated with the hill-climbing strategy (HMFOHC). The HMFOHC algorithm is mainly utilized in this article to minimize the huge number of parameters associated with the DCNN architecture. The efficiency of the proposed methodology is evaluated using two datasets namely the BioImLab chromosome dataset and hospital dataset. The proposed HMFOHC optimized DCNN architecture is mainly utilized for multiclass classification where it differentiates five numerical chromosome abnormalities, namely Trisomy 13, Trisomy 18, Trisomy 21, Trisomy XXY syndrome, and Monosomy X. The proposed model offers an accuracy, F1-score, and kappa coefficient value of 98.65%, 98.86%, and 0.9894, respectively. The results obtained show that the proposed model achieves higher classification accuracy when compared with the different state-of-art techniques such as deep learning, random forest, and CNN. The inference time of the proposed methodology is 12.5s which is relatively lower than the state-of-art techniques. The proposed approach can help cytogenetics forensic experts make better decisions and save time by automating manual karyotyping. RESEARCH HIGHLIGHTS: Manual karyotyping is complex, time-consuming, and error-prone. To overcome these complexities, automated chromosome karyotype architecture is proposed using the DCNN architecture The proposed method is mainly applied for multiclass classification where the different types of numerical abnormalities are addressed such as Trisomy 13, Trisomy 18, Trisomy 21, Trisomy XXY syndrome, and Monosomy X.

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