Traditional and deep‐based techniques for end‐to‐end automated karyotyping: A review.

In the field of cytogenetics, chromosome image analysis or karyotyping from metaphase images plays an imperative role in the diagnosis, prognosis and treatment assessment of different genetic disorders and cancers. This paper is a comprehensive review on different traditional and deep‐based techniques, which are utilized in the design of automated karyotyping systems (AKSs). By this review, a detailed methodology is suggested for the design of end‐to‐end automated karyotyping system (EEAKS) which portrays a sequential multi stage approach. Methods related to all the stages in EEAKS are systematically surveyed by exploring the state of the art literature. Datasets and performance measures incorporated in the past studies are explored. Even though numerous methods were proposed throughout the past three decades, a completely automated framework has not yet been acknowledged. Inferences from this study show that, while various traditional image processing strategies are utilized for pre‐processing and segmentation, machine learning techniques are used only for the classification purpose. In conventional classifiers, artificial neural networks are generally utilized even when the peak performance is given by support vector machines. However, owing to the recent prodigious breakthrough in computer vision, deep neural networks are progressively utilized for developing automated systems. It is seen that deep neural networks are not yet explored in the realm of pre‐processing stage of EEAKS. However, limited number of methods based on convolutional neural networks (CNN) are utilized in all other stages. This review recommends a hybrid CNN for the design of EEAKS, in which all the stages can be automated by sub CNNs. Methodology for generating sufficient datasets is also discussed here which is, indeed, required for further research in this area. This paper concludes with future research directions for the development of a fully automated end‐to‐end karyotyping system. [ABSTRACT FROM AUTHOR]