Autism spectrum disorder (ASD) is a developmental disability caused by differences in the brain regions. Analysis of differential expression (DE) of transcriptomic data allows for genome-wide analysis of gene expression changes related to ASD. De-novo mutations may play a vital role in ASD, but the list of genes involved is still far from complete. Differentially expressed genes (DEGs) are treated as candidate biomarkers and a small set of DEGs might be identified as biomarkers using either biological knowledge or data-driven approaches like machine learning and statistical analysis. In this study, we employed a machine learning-based approach to identify the differential gene expression between ASD and Typical Development (TD). The gene expression data of 15 ASD and 15 TD were obtained from the NCBI GEO database. Initially, we extracted the data and used a standard pipeline to pre-process the data. Further, Random Forest (RF) was used to discriminate genes between ASD and TD. We identified the top 10 prominent differential genes and compared them with the statistical test results. Our results show that the proposed RF model yields 5-fold cross-validation accuracy, sensitivity and specificity of 96.67%. Further, we obtained precision and F-measure scores of 97.5% and 96.57%, respectively. Moreover, we found 34 unique DEG chromosomal locations having influential contributions in identifying ASD from TD. We have also identified chr3:113322718-113322659 as the most significant contributing chromosomal location in discriminating ASD and TD. Our machine learning-based method of refining DE analysis is promising for finding biomarkers from gene expression profiles and prioritizing DEGs. Moreover, our study reported top 10 gene signatures for ASD may facilitate the development of reliable diagnosis and prognosis biomarkers for screening ASD.
The era of neural networks has changed the world of automation by introducing smarter and more capable machines that can learn complex features from data. Transfer learning refers to using knowledge gained by a model and utilizing it for another machine learning task. In this research, the authors perform comparative analysis for feature extraction of several state-of-the-art neural networks. The authors also introduce a self-curated dataset and test the performance of Xception, VGG16, VGG19, ResNet50, InceptionV3, Incep-tionResNetV2, MobileNet and DenseNet121 pre-trained models as feature extractors on the dataset. On these extracted features, the researchers train a convolutional neural network and compare their performance and computational complexities. DenseNet121 and In-ceptionResNetV2 achieve the best performance but take longer time to train compared to other models. VGG16 and VGG19 architectures are computationally expensive due to their large number of parameters. We propose our system as a security application for public places where we need a bifurcation between the permissibility of toddlers and pets. Future work is centered around data security by employing federated learning algorithms and introducing new categories and expanding the data for a wider application.
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