An Optimal Stacked ResNet-BiLSTM-Based Accurate Detection and Classification of Genetic Disorders

Neural Process Lett. 2023 May 19:1-22. doi: 10.1007/s11063-023-11195-3. Online ahead of print.

Abstract

Gene is located inside the nuclease and the genetic data is contained in deoxyribonucleic acid (DNA). A person's gene count ranges from 20,000 to 30,000. Even a minor alteration to the DNA sequence can be harmful if it affects the cell's fundamental functions. As a result, the gene begins to act abnormally. The sorts of genetic abnormalities brought on by mutation include chromosomal disorders, complex disorders, and single-gene disorders. Therefore, a detailed diagnosis method is required. Thus, we proposed an Elephant Herd Optimization-Whale Optimization Algorithm (EHO-WOA) optimized Stacked ResNet-Bidirectional Long Term Short Memory (ResNet-BiLSTM) model for detecting genetic disorders. Here, a hybrid EHO-WOA algorithm is presented to assess the Stacked ResNet-BiLSTM architecture's fitness. The ResNet-BiLSTM design uses the genotype and gene expression phenotype as input data. Furthermore, the proposed method identifies rare genetic disorders such as Angelman Syndrome, Rett Syndrome, and Prader-Willi Syndrome. It demonstrates the effectiveness of the developed model with greater accuracy, recall, specificity, precision, and f1-score. Thus, a wide range of DNA deficiencies including Prader-Willi syndrome, Marfan syndrome, Early Onset Morbid Obesity, Rett syndrome, and Angelman syndrome are predicted accurately.

Keywords: Angelman syndrome; Elephant herd optimization; Genetic disorder; Prader-Willi syndrome; Stacked ResNet-bidirectional long short term memory model; Whale optimization algorithm.