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Introduction: Diabetes is considered one of the leading healthcare concerns affecting millions worldwide. Taking appropriate action at the earliest stages of the disease depends on early diabetes prediction and identification. To support healthcare providers for better diagnosis and prognosis of diseases, machine learning has been explored in the healthcare industry in recent years.Methods: To predict diabetes, this research has conducted experiments on five boosting algorithms on the Pima diabetes dataset. The dataset was obtained from the University of California, Irvine (UCI) machine learning repository, which contains several important clinical features. Exploratory data analysis was used to identify the characteristics of the dataset. Moreover, upsampling, normalisation, feature selection, and hyperparameter tuning were employed for predictive analytics.Results: The results were analysed using various statistical/machine learning metrics and k-fold cross-validation techniques. Gradient boosting achieved the greatest accuracy rate of 92.85% among all the classifiers. Precision, recall, f1-score, and receiver operating characteristic (ROC) curves were used to further validate the model.Discussion: The suggested model outperformed the current studies in terms of prediction accuracy, demonstrating its applicability to other diseases with similar predicate indications.

Introduction: Essential genes are essential for the survival of various species. These genes are a family linked to critical cellular activities for species survival. These genes are coded for proteins that regulate central metabolism, gene translation, deoxyribonucleic acid replication, and fundamental cellular structure and facilitate intracellular and extracellular transport. Essential genes preserve crucial genomics information that may hold the key to a detailed knowledge of life and evolution. Essential gene studies have long been regarded as a vital topic in computational biology due to their relevance. An essential gene is composed of adenine, guanine, cytosine, and thymine and its various combinations.Methods: This paper presents a novel method of extracting information on the stationary patterns of nucleotides such as adenine, guanine, cytosine, and thymine in each gene. For this purpose, some co-occurrence matrices are derived that provide the statistical distribution of stationary patterns of nucleotides in the genes, which is helpful in establishing the relationship between the nucleotides. For extracting discriminant features from each co-occurrence matrix, energy, entropy, homogeneity, contrast, and dissimilarity features are computed, which are extracted from all co-occurrence matrices and then concatenated to form a feature vector representing each essential gene. Finally, supervised machine learning algorithms are applied for essential gene classification based on the extracted fixed-dimensional feature vectors.Results: For comparison, some existing state-of-the-art feature representation techniques such as Shannon entropy (SE), Hurst exponent (HE), fractal dimension (FD), and their combinations have been utilized.Discussion: An extensive experiment has been performed for classifying the essential genes of five species that show the robustness and effectiveness of the proposed methodology.

In this current era, biomedical big data handling is a challenging task. Interestingly, the integration of multi-modal data, followed by significant feature mining (gene signature detection), becomes a daunting task. Remembering this, here, we proposed a novel framework, namely, three-factor penalized, non-negative matrix factorization-based multiple kernel learning with soft margin hinge loss (3PNMF-MKL) for multi-modal data integration, followed by gene signature detection. In brief, limma, employing the empirical Bayes statistics, was initially applied to each individual molecular profile, and the statistically significant features were extracted, which was followed by the three-factor penalized non-negative matrix factorization method used for data/matrix fusion using the reduced feature sets. Multiple kernel learning models with soft margin hinge loss had been deployed to estimate average accuracy scores and the area under the curve (AUC). Gene modules had been identified by the consecutive analysis of average linkage clustering and dynamic tree cut. The best module containing the highest correlation was considered the potential gene signature. We utilized an acute myeloid leukemia cancer dataset from The Cancer Genome Atlas (TCGA) repository containing five molecular profiles. Our algorithm generated a 50-gene signature that achieved a high classification AUC score (viz., 0.827). We explored the functions of signature genes using pathway and Gene Ontology (GO) databases. Our method outperformed the state-of-the-art methods in terms of computing AUC. Furthermore, we included some comparative studies with other related methods to enhance the acceptability of our method. Finally, it can be notified that our algorithm can be applied to any multi-modal dataset for data integration, followed by gene module discovery.

Introduction: Of all the cancers that afflict women, breast cancer (BC) has the second-highest mortality rate, and it is also believed to be the primary cause of the high death rate. Breast cancer is the most common cancer that affects women globally. There are two types of breast tumors: benign (less harmful and unlikely to become breast cancer) and malignant (which are very dangerous and might result in aberrant cells that could result in cancer).Methods: To find breast abnormalities like masses and micro-calcifications, competent and educated radiologists often examine mammographic images. This study focuses on computer-aided diagnosis to help radiologists make more precise diagnoses of breast cancer. This study aims to compare and examine the performance of the proposed shallow convolutional neural network architecture having different specifications against pre-trained deep convolutional neural network architectures trained on mammography images. Mammogram images are pre-processed in this study's initial attempt to carry out the automatic identification of BC. Thereafter, three different types of shallow convolutional neural networks with representational differences are then fed with the resulting data. In the second method, transfer learning via fine-tuning is used to feed the same collection of images into pre-trained convolutional neural networks VGG19, ResNet50, MobileNet-v2, Inception-v3, Xception, and Inception-ResNet-v2.Results: In our experiment with two datasets, the accuracy for the CBIS-DDSM and INbreast datasets are 80.4%, 89.2%, and 87.8%, 95.1% respectively.Discussion: It can be concluded from the experimental findings that the deep network-based approach with precise tuning outperforms all other state-of-the-art techniques in experiments on both datasets.

COVID-19 has caused over 528 million infected cases and over 6.25 million deaths since its outbreak in 2019. The uncontrolled transmission of the SARS-CoV-2 virus has caused human suffering and the death of uncountable people. Despite the continuous effort by the researchers and laboratories, it has been difficult to develop reliable efficient and stable vaccines to fight against the rapidly evolving virus strains. Therefore, effectively preventing the transmission in the community and globally has remained an urgent task since its outbreak. To avoid the rapid spread of infection, we first need to identify the infected individuals and isolate them. Therefore, screening computed tomography (CT scan) and X-ray can better separate the COVID-19 infected patients from others. However, one of the main challenges is to accurately identify infection from a medical image. Even experienced radiologists often have failed to do it accurately. On the other hand, deep learning algorithms can tackle this task much easier, faster, and more accurately. In this research, we adopt the transfer learning method to identify the COVID-19 patients from normal individuals when there is an inadequacy of medical image data to save time by generating reliable results promptly. Furthermore, our model can perform both X-rays and CT scan. The experimental results found that the introduced model can achieve 99.59% accuracy for X-rays and 99.95% for CT scan images. In summary, the proposed method can effectively identify COVID-19 infected patients, could be a great way which will help to classify COVID-19 patients quickly and prevent the viral transmission in the community.

Colorectal cancer (CRC) is the third leading cause of cancer death globally. Early detection and removal of precancerous polyps can significantly reduce the chance of CRC patient death. Currently, the polyp detection rate mainly depends on the skill and expertise of gastroenterologists. Over time, unidentified polyps can develop into cancer. Machine learning has recently emerged as a powerful method in assisting clinical diagnosis. Several classification models have been proposed to identify polyps, but their performance has not been comparable to an expert endoscopist yet. Here, we propose a multiple classifier consultation strategy to create an effective and powerful classifier for polyp identification. This strategy benefits from recent findings that different classification models can better learn and extract various information within the image. Therefore, our Ensemble classifier can derive a more consequential decision than each individual classifier. The extracted combined information inherits the ResNet’s advantage of residual connection, while it also extracts objects when covered by occlusions through depth-wise separable convolution layer of the Xception model. Here, we applied our strategy to still frames extracted from a colonoscopy video. It outperformed other state-of-the-art techniques with a performance measure greater than 95% in each of the algorithm parameters. Our method will help researchers and gastroenterologists develop clinically applicable, computational-guided tools for colonoscopy screening. It may be extended to other clinical diagnoses that rely on image.

Cancer research has seen explosive development exploring deep learning (DL) techniques for analysing magnetic resonance imaging (MRI) images for predicting brain tumours. We have observed a substantial gap in explanation, interpretability, and high accuracy for DL models. Consequently, we propose an explanation-driven DL model by utilising a convolutional neural network (CNN), local interpretable model-agnostic explanation (LIME), and Shapley additive explanation (SHAP) for the prediction of discrete subtypes of brain tumours (meningioma, glioma, and pituitary) using an MRI image dataset. Unlike previous models, our model used a dual-input CNN approach to prevail over the classification challenge with images of inferior quality in terms of noise and metal artifacts by adding Gaussian noise. Our CNN training results reveal 94.64% accuracy as compared to other state-of-the-art methods. We used SHAP to ensure consistency and local accuracy for interpretation as Shapley values examine all future predictions applying all possible combinations of inputs. In contrast, LIME constructs sparse linear models around each prediction to illustrate how the model operates in the immediate area. Our emphasis for this study is interpretability and high accuracy, which is critical for realising disparities in predictive performance, helpful in developing trust, and essential in integration into clinical practice. The proposed method has a vast clinical application that could potentially be used for mass screening in resource-constraint countries.

Understanding molecular features that facilitate aggressive phenotypes in glioblastoma multiforme (GBM) remains a major clinical challenge. Accurate diagnosis of GBM subtypes, namely classical, proneural, and mesenchymal, and identification of specific molecular features are crucial for clinicians for systematic treatment. We develop a biologically interpretable and highly efficient deep learning framework based on a convolutional neural network for subtype identification. The classifiers were generated from high-throughput data of different molecular levels, i.e., transcriptome and methylome. Furthermore, an integrated subsystem of transcriptome and methylome data was also used to build the biologically relevant model. Our results show that deep learning model outperforms the traditional machine learning algorithms. Furthermore, to evaluate the biological and clinical applicability of the classification, we performed weighted gene correlation network analysis, gene set enrichment, and survival analysis of the feature genes. We identified the genotype–phenotype relationship of GBM subtypes and the subtype-specific predictive biomarkers for potential diagnosis and treatment.

The major interest domains of single-cell RNA sequential analysis are identification of existing and novel types of cells, depiction of cells, cell fate prediction, classification of several types of tumor, and investigation of heterogeneity in different cells. Single-cell clustering plays an important role to solve the aforementioned questions of interest. Cluster identification in high dimensional single-cell sequencing data faces some challenges due to its nature. Dimensionality reduction models can solve the problem. Here, we introduce a potential cluster specified frequent biomarkers discovery framework using dimensionality reduction and hierarchical agglomerative clustering Louvain for single-cell RNA sequencing data analysis. First, we pre-filtered the features with fewer number of cells and the cells with fewer number of features. Then we created a Seurat object to store data and analysis together and used quality control metrics to discard low quality or dying cells. Afterwards we applied global-scaling normalization method “LogNormalize” for data normalization. Next, we computed cell-to-cell highly variable features from our dataset. Then, we applied a linear transformation and linear dimensionality reduction technique, Principal Component Analysis (PCA) to project high dimensional data to an optimal low-dimensional space. After identifying fifty “significant”principal components (PCs) based on strong enrichment of low p-value features, we implemented a graph-based clustering algorithm Louvain for the cell clustering of 10 top significant PCs. We applied our model to a single-cell RNA sequential dataset for a rare intestinal cell type in mice (NCBI accession ID:GSE62270, 23,630 features and 1872 samples (cells)). We obtained 10 cell clusters with a maximum modularity of 0.885 1. After detecting the cell clusters, we found 3871 cluster-specific biomarkers using an expression feature extraction statistical tool for single-cell sequencing data, Model-based Analysis of Single-cell Transcriptomics (MAST) with a log 2FC threshold of 0.25 and a minimum feature detection of 25%. From these cluster-specific biomarkers, we found 1892 most frequent markers, i.e., overlapping biomarkers. We performed degree hub gene network analysis using Cytoscape and reported the five highest degree genes (Rps4x, Rps18, Rpl13a, Rps12 and Rpl18a). Subsequently, we performed KEGG pathway and Gene Ontology enrichment analysis of cluster markers using David 6.8 software tool. In summary, our proposed framework that integrated dimensionality reduction and agglomerative hierarchical clustering provides a robust approach to efficiently discover cluster-specific frequent biomarkers, i.e., overlapping biomarkers from single-cell RNA sequencing data.