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Cardiovascular diseases represent the leading global cause of death, typically diagnosed and addressed through electrocardiograms (ECG), which record the heart's electrical activity. In recent years, there has been a notable surge in ECG recordings, driven by the widespread use of wearable devices. However, the limited availability of medical experts to analyze these recordings underscores the necessity for automated ECG analysis using computer-aided methods. In this study, we introduced 3DECG-Net, a deep learning model designed to detect and classify seven distinct heart states through the analysis of data fusion from 12-lead ECG in a multi-label framework. Our model leverages a residual architecture with a multi-head attention mechanism, undergoing training within a five-fold cross-validation scheme. By transforming 12-lead ECG signals into 3D data with the help of Recurrent Plot technique, 3DECG-Net achieves a noteworthy micro F1-score of 80.3 %, surpassing the performance of other state-of-the-art deep learning models developed for this specific task. Also, we present an ECG preprocessing framework to generate compact, high-quality ECG signals for potential application in future studies within this domain. We conduct an explainable AI experiment using Local Interpretable Model-agnostic Explanations (LIME) to elucidate the significance of each lead in accurately diagnosing specific arrhythmias, ensuring the logical processing of ECG data by 3DECG-Net. The findings of this study suggest that the proposed model is trustworthy and has the potential to be used as an effective diagnostic toolset for identifying heart arrhythmias. Its effectiveness can improve the diagnostic process, facilitate early treatment, and enhance overall efficiency in medical settings., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

Hematopoietic stem and progenitor cells (HSPCs) rely on a complex interplay among transcription factors (TFs) to regulate differentiation into mature blood cells. A heptad of TFs (FLI1, ERG, GATA2, RUNX1, TAL1, LYL1, LMO2) bind regulatory elements in bulk CD34+ HSPCs. However, whether specific heptad-TF combinations have distinct roles in regulating hematopoietic differentiation remains unknown. We mapped genome-wide chromatin contacts (HiC, H3K27ac, HiChIP), chromatin modifications (H3K4me3, H3K27ac, H3K27me3) and 10 TF binding profiles (heptad, PU.1, CTCF, STAG2) in HSPC subsets (stem/multipotent progenitors plus common myeloid, granulocyte macrophage, and megakaryocyte erythrocyte progenitors) and found TF occupancy and enhancer-promoter interactions varied significantly across cell types and were associated with cell-type-specific gene expression. Distinct regulatory elements were enriched with specific heptad-TF combinations, including stem-cell-specific elements with ERG, and myeloid- and erythroid-specific elements with combinations of FLI1, RUNX1, GATA2, TAL1, LYL1, and LMO2. Furthermore, heptad-occupied regions in HSPCs were subsequently bound by lineage-defining TFs, including PU.1 and GATA1, suggesting that heptad factors may prime regulatory elements for use in mature cell types. We also found that enhancers with cell-type-specific heptad occupancy shared a common grammar with respect to TF binding motifs, suggesting that combinatorial binding of TF complexes was at least partially regulated by features encoded in DNA sequence motifs. Taken together, this study comprehensively characterizes the gene regulatory landscape in rare subpopulations of human HSPCs. The accompanying data sets should serve as a valuable resource for understanding adult hematopoiesis and a framework for analyzing aberrant regulatory networks in leukemic cells., (© 2023 by The American Society of Hematology. Licensed under Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0), permitting only noncommercial, nonderivative use with attribution. All other rights reserved.)

In recent years, cardiovascular diseases (CVDs) have become one of the leading causes of mortality globally. At early stages, CVDs appear with minor symptoms and progressively get worse. The majority of people experience symptoms such as exhaustion, shortness of breath, ankle swelling, fluid retention, and other symptoms when starting CVD. Coronary artery disease (CAD), arrhythmia, cardiomyopathy, congenital heart defect (CHD), mitral regurgitation, and angina are the most common CVDs. Clinical methods such as blood tests, electrocardiography (ECG) signals, and medical imaging are the most effective methods used for the detection of CVDs. Among the diagnostic methods, cardiac magnetic resonance imaging (CMRI) is increasingly used to diagnose, monitor the disease, plan treatment and predict CVDs. Coupled with all the advantages of CMR data, CVDs diagnosis is challenging for physicians as each scan has many slices of data, and the contrast of it might be low. To address these issues, deep learning (DL) techniques have been employed in the diagnosis of CVDs using CMR data, and much research is currently being conducted in this field. This review provides an overview of the studies performed in CVDs detection using CMR images and DL techniques. The introduction section examined CVDs types, diagnostic methods, and the most important medical imaging techniques. The following presents research to detect CVDs using CMR images and the most significant DL methods. Another section discussed the challenges in diagnosing CVDs from CMRI data. Next, the discussion section discusses the results of this review, and future work in CVDs diagnosis from CMR images and DL techniques are outlined. Finally, the most important findings of this study are presented in the conclusion section., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Invasive angiography is the reference standard for coronary artery disease (CAD) diagnosis but is expensive and associated with certain risks. Machine learning (ML) using clinical and noninvasive imaging parameters can be used for CAD diagnosis to avoid the side effects and cost of angiography. However, ML methods require labeled samples for efficient training. The labeled data scarcity and high labeling costs can be mitigated by active learning. This is achieved through selective query of challenging samples for labeling. To the best of our knowledge, active learning has not been used for CAD diagnosis yet. An Active Learning with Ensemble of Classifiers (ALEC) method is proposed for CAD diagnosis, consisting of four classifiers. Three of these classifiers determine whether a patient's three main coronary arteries are stenotic or not. The fourth classifier predicts whether the patient has CAD or not. ALEC is first trained using labeled samples. For each unlabeled sample, if the outputs of the classifiers are consistent, the sample along with its predicted label is added to the pool of labeled samples. Inconsistent samples are manually labeled by medical experts before being added to the pool. The training is performed once more using the samples labeled so far. The interleaved phases of labeling and training are repeated until all samples are labeled. Compared with 19 other active learning algorithms, ALEC combined with a support vector machine classifier attained superior performance with 97.01% accuracy. Our method is justified mathematically as well. We also comprehensively analyze the CAD dataset used in this paper. As part of dataset analysis, features pairwise correlation is computed. The top 15 features contributing to CAD and stenosis of the three main coronary arteries are determined. The relationship between stenosis of the main arteries is presented using conditional probabilities. The effect of considering the number of stenotic arteries on sample discrimination is investigated. The discrimination power over dataset samples is visualized, assuming each of the three main coronary arteries as a sample label and considering the two remaining arteries as sample features., Competing Interests: Declaration of competing interest None Declared., (Copyright © 2023 The Authors. Published by Elsevier Ltd.. All rights reserved.)

One of the most critical challenges in managing complex diseases like COVID-19 is to establish an intelligent triage system that can optimize the clinical decision-making at the time of a global pandemic. The clinical presentation and patients' characteristics are usually utilized to identify those patients who need more critical care. However, the clinical evidence shows an unmet need to determine more accurate and optimal clinical biomarkers to triage patients under a condition like the COVID-19 crisis. Here we have presented a machine learning approach to find a group of clinical indicators from the blood tests of a set of COVID-19 patients that are predictive of poor prognosis and morbidity. Our approach consists of two interconnected schemes: Feature Selection and Prognosis Classification. The former is based on different Matrix Factorization (MF)-based methods, and the latter is performed using Random Forest algorithm. Our model reveals that Arterial Blood Gas (ABG) O 2 Saturation and C-Reactive Protein (CRP) are the most important clinical biomarkers determining the poor prognosis in these patients. Our approach paves the path of building quantitative and optimized clinical management systems for COVID-19 and similar diseases., (Copyright © 2022 Elsevier Ltd. All rights reserved.)

In the last few years, the application of Machine Learning approaches like Deep Neural Network (DNN) models have become more attractive in the healthcare system given the rising complexity of the healthcare data. Machine Learning (ML) algorithms provide efficient and effective data analysis models to uncover hidden patterns and other meaningful information from the considerable amount of health data that conventional analytics are not able to discover in a reasonable time. In particular, Deep Learning (DL) techniques have been shown as promising methods in pattern recognition in the healthcare systems. Motivated by this consideration, the contribution of this paper is to investigate the deep learning approaches applied to healthcare systems by reviewing the cutting-edge network architectures, applications, and industrial trends. The goal is first to provide extensive insight into the application of deep learning models in healthcare solutions to bridge deep learning techniques and human healthcare interpretability. And then, to present the existing open challenges and future directions., (Copyright © 2020 Elsevier Inc. All rights reserved.)

The human genome encodes for a family of editing enzymes known as APOBEC3 (apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like3). They induce context dependent G-to-A changes, referred to as "hypermutation", in the genome of viruses such as HIV, SIV, HBV and endogenous retroviruses. Hypermutation is characterized by aligning affected sequences to a reference sequence. We show that indels (insertions/deletions) in the sequences lead to an incorrect assignment of APOBEC3 targeted and non-target sites. This can result in an incorrect identification of hypermutated sequences and erroneous biological inferences made based on hypermutation analysis., (Copyright © 2015 Elsevier Inc. All rights reserved.)