Manoj Agarwal

Sheetal Rajpal, Ankit Rajpal, Manoj Agarwal et al.

BACKGROUND: Breast cancer has emerged as one of the most prevalent cancers among women leading to a high mortality rate. Due to the heterogeneous nature of breast cancer, there is a need to identify differentially expressed genes associated with breast cancer subtypes for its timely diagnosis and treatment. OBJECTIVE: To identify a small gene set for each of the four breast cancer subtypes that could act as its signature, the paper proposes a novel algorithm for gene signature identification. METHODS: The present work uses interpretable AI methods to investigate the predictions made by the deep neural network employed for subtype classification to identify biomarkers using the TCGA breast cancer RNA Sequence data. RESULTS: The proposed algorithm led to the discovery of a set of 43 differentially expressed gene signatures. We achieved a competitive average 10-fold accuracy of 0.91, using neural network classifier. Further, gene set analysis revealed several relevant pathways, such as GRB7 events in ERBB2 and p53 signaling pathway. Using the Pearson correlation matrix, we noted that the subtype-specific genes are correlated within each subtype. CONCLUSIONS: The proposed technique enables us to find a concise and clinically relevant gene signature set.

Sheetal Rajpal, Virendra Kumar, Manoj Agarwal et al.

Breast cancer has long been a prominent cause of mortality among women. Diagnosis, therapy, and prognosis are now possible, thanks to the availability of RNA sequencing tools capable of recording gene expression data. Molecular subtyping being closely related to devising clinical strategy and prognosis, this paper focuses on the use of gene expression data for the classification of breast cancer into four subtypes, namely, Basal, Her2, LumA, and LumB. In stage 1, we suggested a deep learning-based model that uses an autoencoder to reduce dimensionality. The size of the feature set is reduced from 20,530 gene expression values to 500 by using an autoencoder. This encoded representation is passed to the deep neural network of the second stage for the classification of patients into four molecular subtypes of breast cancer. By deploying the combined network of stages 1 and 2, we have been able to attain a mean 10-fold test accuracy of 0.907 on the TCGA breast cancer dataset. The proposed framework is fairly robust throughout 10 different runs, as shown by the boxplot for classification accuracy. Compared to related work reported in the literature, we have achieved a competitive outcome. In conclusion, the proposed two-stage deep learning-based model is able to accurately classify four breast cancer subtypes, highlighting the autoencoder's capacity to deduce the compact representation and the neural network classifier's ability to correctly label breast cancer patients.

Sheetal Rajpal, Manoj Agarwal, Ankit Rajpal et al.

Coronaviruses constitute a family of viruses that gives rise to respiratory diseases. As COVID-19 is highly contagious, early diagnosis of COVID-19 is crucial for an effective treatment strategy. However, the RT-PCR test which is considered to be a gold standard in the diagnosis of COVID-19 suffers from a high false-negative rate. Chest X-ray (CXR) image analysis has emerged as a feasible and effective diagnostic technique towards this objective. In this work, we propose the COVID-19 classification problem as a three-class classification problem to distinguish between COVID-19, normal, and pneumonia classes. We propose a three-stage framework, named COV-ELM. Stage one deals with preprocessing and transformation while stage two deals with feature extraction. These extracted features are passed as an input to the ELM at the third stage, resulting in the identification of COVID-19. The choice of ELM in this work has been motivated by its faster convergence, better generalization capability, and shorter training time in comparison to the conventional gradient-based learning algorithms. As bigger and diverse datasets become available, ELM can be quickly retrained as compared to its gradient-based competitor models. The proposed model achieved a macro average F1-score of 0.95 and the overall sensitivity of ${0.94 \pm 0.02} at a 95% confidence interval. When compared to state-of-the-art machine learning algorithms, the COV-ELM is found to outperform its competitors in this three-class classification scenario. Further, LIME has been integrated with the proposed COV-ELM model to generate annotated CXR images. The annotations are based on the superpixels that have contributed to distinguish between the different classes. It was observed that the superpixels correspond to the regions of the human lungs that are clinically observed in COVID-19 and Pneumonia cases.