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15 pages, 8130 KB  
Article
Integrative Machine Learning Framework for Epigenetic Biomarker Discovery and Disease Severity Prediction in Childhood Atopic Dermatitis
by Ding-Wei Chen and Yun-Nan Chang
Big Data Cogn. Comput. 2026, 10(4), 101; https://doi.org/10.3390/bdcc10040101 - 24 Mar 2026
Viewed by 1004
Abstract
Atopic dermatitis (AD) is a chronic inflammatory skin disorder that is significantly contributed to by epigenetics. We developed a machine learning-based framework to identify DNA methylation biomarkers associated with AD classification and severity. Genome-wide methylation data from peripheral blood were processed using four [...] Read more.
Atopic dermatitis (AD) is a chronic inflammatory skin disorder that is significantly contributed to by epigenetics. We developed a machine learning-based framework to identify DNA methylation biomarkers associated with AD classification and severity. Genome-wide methylation data from peripheral blood were processed using four feature selection algorithms: coarse approximation linear function (CALF), elastic net (EN), minimum redundancy maximum relevance (mRMR), and recursive feature elimination with cross-validation (RFECV). The integrative framework identified a central panel of 8 CpG sites that achieved an area under the curve (AUC) of 1.00 in the test set. This panel demonstrated high disease specificity, showing poor classification performance for systemic lupus erythematosus (AUC = 0.46), Crohn’s disease (AUC = 0.50), and oral squamous cell carcinoma (AUC = 0.58). Severity prediction using RFECV-selected 63 CpG sites (RFE63) achieved high accuracy across classifiers, with Random Forest (accuracy = 0.94) outperforming the others. The functional enrichment of CpG-associated genes highlighted key immune-related transcriptional regulators, including STAT5A, RUNX1, MEIS1, and PAX4. These genes are linked to chromatin remodeling, T helper cell differentiation, and interleukin-2 regulation, which are critical in AD pathogenesis and severity. Our findings demonstrate the utility of machine learning-integrated epigenomics in identifying robust, disease-specific biomarkers for AD diagnosis and monitoring, offering new insights into the molecular mechanisms underlying childhood AD. However, further validation in large-scale independent cohorts is required to confirm their clinical robustness and generalizability. Full article
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29 pages, 6237 KB  
Article
Development of a Multi-Scale Spectrum Phenotyping Framework for High-Throughput Screening of Salt-Tolerant Rice Varieties
by Xiaorui Li, Jiahao Han, Dongdong Han, Shibo Fang, Zhanhao Zhang, Li Yang, Chunyan Zhou, Chengming Jin and Xuejian Zhang
Agronomy 2026, 16(6), 658; https://doi.org/10.3390/agronomy16060658 - 20 Mar 2026
Viewed by 745
Abstract
Soil salinization severely threatens agricultural sustainability in saline–alkali regions, and high-throughput, efficient screening of salt-tolerant rice varieties is critical to mitigating this threat. Traditional evaluation methods are constrained by low throughput, limited spatiotemporal resolution, and the lack of standardized indicators. To address these [...] Read more.
Soil salinization severely threatens agricultural sustainability in saline–alkali regions, and high-throughput, efficient screening of salt-tolerant rice varieties is critical to mitigating this threat. Traditional evaluation methods are constrained by low throughput, limited spatiotemporal resolution, and the lack of standardized indicators. To address these gaps, this study established a multi-scale spectral phenotyping framework integrating ground-based hyperspectral, UAV-borne multispectral, and Sentinel-2 satellite remote sensing data for high-throughput screening of salt-tolerant rice. Field experiments were conducted with 12 rice lines at five key growth stages in Ningxia, China, with synchronous ground spectral measurements and UAV image acquisition on the same day for each stage. Five feature selection methods were employed to screen salt stress-sensitive hyperspectral bands, with classification accuracy validated via a Support Vector Machine (SVM) model. The results showed that: (1) rice spectral characteristics varied dynamically across growth stages, and first-order differential transformation effectively amplified subtle spectral variations in stress-sensitive regions; (2) the Minimum Redundancy–Maximum Relevance (mRMR) method outperformed other methods, achieving 100% classification accuracy at key growth stages, with sensitive bands dominated by red edge bands (58.33%); (3) the constructed Salt Stress Index (SIR) showed strong correlations with classical vegetation indices and rice yield, and could clearly distinguish salt-tolerant and salt-sensitive rice varieties, with stable performance against field environmental noise; and (4) band matching between UAV and Sentinel-2 data enabled multi-scale data fusion and regional-scale salt stress monitoring. This framework realizes the transformation from qualitative spectral description to quantitative salt tolerance evaluation, providing standardized technical support for salt-tolerant rice breeding and precision management of saline–alkali lands. Full article
(This article belongs to the Section Precision and Digital Agriculture)
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31 pages, 15712 KB  
Article
Real-Time Anomaly Detection for Civil Aviation VHF Communications Using Learnable Kernels and Conditional GANs
by Junyi Zhai, Gang Sun, Zhengqiang Li, Quanxin Cao and Yufeng Huang
Aerospace 2026, 13(3), 270; https://doi.org/10.3390/aerospace13030270 - 13 Mar 2026
Viewed by 745
Abstract
Civil aviation VHF communication is safety-critical, yet operational links are routinely disturbed by atmospheric effects, aging hardware, and electromagnetic interference. The resulting anomalies are typically weak, intermittent, and extremely rare, which makes real-time detection difficult under strong temporal dependence and severe class imbalance. [...] Read more.
Civil aviation VHF communication is safety-critical, yet operational links are routinely disturbed by atmospheric effects, aging hardware, and electromagnetic interference. The resulting anomalies are typically weak, intermittent, and extremely rare, which makes real-time detection difficult under strong temporal dependence and severe class imbalance. We propose an end-to-end framework that couples (i) a learnable kernel projection for adaptive nonlinear feature extraction, (ii) a differentiable relevance–redundancy objective for feature refinement, and (iii) conditional temporal generation to augment minority anomaly patterns. A lightweight CNN–LSTM head is used for streaming inference. Training uses a mixture of operational anomalies and simulated degradation scenarios, while evaluation is conducted using operational data only. Experiments on 1.2 million VHF frames collected from real flight operations and ground station monitoring achieve an F1-score of 0.947, ROC-AUC of 0.972, and PR-AUC of 0.968, with an average inference latency of 34.7 ms. Full article
(This article belongs to the Section Air Traffic and Transportation)
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24 pages, 4292 KB  
Article
KhayyamNet: A Parallel Multiscale Feature Fusion Framework for Accurate Diagnosis of Multiple Sclerosis and Myelitis
by Mahshid Dehghanpour, Mansoor Fateh, Zeynab Mohammadpoory and Saideh Ferdowsi
Mach. Learn. Knowl. Extr. 2026, 8(3), 62; https://doi.org/10.3390/make8030062 - 5 Mar 2026
Viewed by 948
Abstract
Multiple Sclerosis (MS) and Myelitis are serious inflammatory spinal cord disorders with overlapping clinical symptoms and radiological characteristics, making accurate differentiation challenging yet clinically essential. Early and precise diagnosis is critical for guiding treatment strategies and improving patient outcomes. In this study, we [...] Read more.
Multiple Sclerosis (MS) and Myelitis are serious inflammatory spinal cord disorders with overlapping clinical symptoms and radiological characteristics, making accurate differentiation challenging yet clinically essential. Early and precise diagnosis is critical for guiding treatment strategies and improving patient outcomes. In this study, we propose KhayyamNet, a novel hybrid deep learning architecture designed to fuse complementary local and global representations for the accurate diagnosis of MS and Myelitis using spinal MRI. To improve robustness and generalization capability, a comprehensive preprocessing strategy including data augmentation and intensity normalization is also applied to reduce noise and address data variability. The proposed architecture combines three complementary deep learning models for feature extraction composed of Xception for high-level semantic features, Convolutional Neural Networks (CNNs) for fine-grained local patterns, and Vision Transformers (ViTs) for global contextual representations via attention mechanisms. Extracted features are then fused and refined using the Minimum Redundancy Maximum Relevance (MRMR) algorithm to eliminate redundancy and retain the most informative signals. Finally, a Random Forest (RF) classifier utilizes the optimized feature set to achieve accurate and robust differentiation between MS, Myelitis, and control spinal MRIs. Experimental results demonstrate that KhayyamNet outperforms existing methods by achieving an average classification accuracy of 98.15±0.80%. This framework demonstrates promising performance for the automated analysis of spinal MRIs and shows potential to assist in the differentiation of MS and Myelitis. While these findings highlight the potential of KhayyamNet for automated MRI interpretation, its evaluation is limited to a single-center dataset, and further validation on external multi-center data is required. Full article
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26 pages, 18301 KB  
Article
Precision Biomarker Identification in Gynecological Cancers Using Coexpression Networks and Attention-Based LSTM in Healthcare 4.0
by Sakib Sarker, Emon Ahammed, Md. Faruk Hosen, Mohammad Badrul Alam Miah, Mohammad Amanul Islam, Deepak Ghimire, Youngbae Hwang and A. S. M. Sanwar Hosen
Diagnostics 2026, 16(4), 546; https://doi.org/10.3390/diagnostics16040546 - 12 Feb 2026
Viewed by 886
Abstract
Background: Cervical cancer (CC) and ovarian cancer (OC) are among the most prevalent and lethal gynecological malignancies in women, necessitating the identification of reliable biomarkers for early diagnosis and prognosis. Methods: This study integrates bioinformatics and Healthcare 4.0 to identify key biomarkers associated [...] Read more.
Background: Cervical cancer (CC) and ovarian cancer (OC) are among the most prevalent and lethal gynecological malignancies in women, necessitating the identification of reliable biomarkers for early diagnosis and prognosis. Methods: This study integrates bioinformatics and Healthcare 4.0 to identify key biomarkers associated with these cancers. Differentially expressed genes (DEGs) were identified from two microarray datasets. mRMR followed by SVM-RFE was applied to the identified DEGs to extract the most significant ML-based DEGs (MDEGs). The predictive ability of the selected gene subsets was further evaluated via multiple classifiers, where attention-based long short-term memory (AttLSTM) consistently achieved the best performance across both datasets. In parallel, WGCNA was conducted to identify coexpression-associated genes (CAGs) from significant modules in each dataset. A PPI network (PPIN) was constructed using the genes common to MDEGs and CAGs and was analyzed via Cytoscape. Results: Four hub genes, MCM3, FOXM1, SH3BP5, and PAPSS2, were identified via the degree method. mRNA expression analysis revealed that FOXM1 and MCM3 were upregulated, whereas SH3BP5 and PAPSS2 were downregulated in cancer tissues compared with normal tissues. ROC curve analysis demonstrated the high prognostic significance of these hub genes, with substantial AUC scores indicating strong discriminatory power. Furthermore, molecular docking analysis with an FDA-approved drug compound confirmed the significant binding affinity between these genes and the drug molecules. Conclusions: These findings suggest that FOXM1, MCM3, SH3BP5, and PAPSS2 could serve as biomarkers for early prognosis, diagnosis, and targeted therapy in patients with cervical and ovarian cancer. Full article
(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
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23 pages, 2243 KB  
Article
Explaining Risk Stratification in Differentiated Thyroid Cancer Using SHAP and Machine Learning Approaches
by Mallika Khwanmuang, Watcharaporn Cholamjiak and Pasa Sukson
Biomedicines 2025, 13(12), 2964; https://doi.org/10.3390/biomedicines13122964 - 2 Dec 2025
Cited by 1 | Viewed by 1446
Abstract
Background/Objectives: Differentiated thyroid cancer (DTC) represents over 90% of all hyroid malignancies and typically has a favorable prognosis. However, approximately 30% of patients experience recurrence within 10 years after initial treatment. Conventional risk classification frameworks such as the American Thyroid Association (ATA) [...] Read more.
Background/Objectives: Differentiated thyroid cancer (DTC) represents over 90% of all hyroid malignancies and typically has a favorable prognosis. However, approximately 30% of patients experience recurrence within 10 years after initial treatment. Conventional risk classification frameworks such as the American Thyroid Association (ATA) and AJCC TNM systems rely heavily on pathological interpretation, which may introduce observer variability and incomplete documentation. This study aimed to develop an interpretable machine-learning framework for risk stratification in DTC and to identify major clinical predictors using SHapley Additive exPlanations (SHAP). Methods: A retrospective dataset of 345 patients was obtained from the UCI Machine Learning Repository. Thirteen clinicopathological features were analyzed, including Age, Gender, T, N, M, Hx Radiotherapy, Focality, Adenopathy, Pathology, and Response. Statistical analysis and feature selection (ReliefF and mRMR) were applied to identify the most influential variables. Two modeling scenarios were tested using an optimizable neural network classifier: (1) all 10 core features and (2) reduced features selected from machine learning criteria. SHAP analysis was used to explain model predictions and determine feature impact for each risk category. Results: Reducing the input features from 10 to 6 led to improved performance in the explainable neural network model (AUC = 0.94, accuracy = 92%), confirming that T, N, Response, Age, M, and Hx Radiotherapy were the most informative predictors. SHAP analysis highlighted N and T as the dominant drivers of high-risk classification, while Response enhanced postoperative biological interpretation. Notably, when Response was excluded (Scenario III), the optimizable tree model still achieved strong predictive performance (AUC = 0.93–0.96), demonstrating that accurate preoperative risk estimation can be achieved using only clinical baseline features. Conclusions: The proposed interpretable neural network model effectively stratifies recurrence risk in DTC while reducing dependence on subjective pathological interpretation. SHAP-based feature attribution enhances clinical transparency, supporting integration of explainable machine learning into thyroid cancer follow-up and personalized management. Full article
(This article belongs to the Special Issue Pathological Biomarkers in Precision Medicine)
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15 pages, 3326 KB  
Article
Radiomics and Machine Learning Approaches for the Preoperative Classification of In Situ vs. Invasive Breast Cancer Using Dynamic Contrast-Enhanced Magnetic Resonance Imaging (DCE–MRI)
by Luana Conte, Rocco Rizzo, Alessandra Sallustio, Eleonora Maggiulli, Mariangela Capodieci, Francesco Tramacere, Alessandra Castelluccia, Giuseppe Raso, Ugo De Giorgi, Raffaella Massafra, Maurizio Portaluri, Donato Cascio and Giorgio De Nunzio
Appl. Sci. 2025, 15(14), 7999; https://doi.org/10.3390/app15147999 - 18 Jul 2025
Cited by 3 | Viewed by 2149
Abstract
Accurate preoperative distinction between in situ and invasive Breast Cancer (BC) is critical for clinical decision-making and treatment planning. Radiomics and Machine Learning (ML) have shown promise in enhancing diagnostic performance from breast MRI, yet their application to this specific task remains underexplored. [...] Read more.
Accurate preoperative distinction between in situ and invasive Breast Cancer (BC) is critical for clinical decision-making and treatment planning. Radiomics and Machine Learning (ML) have shown promise in enhancing diagnostic performance from breast MRI, yet their application to this specific task remains underexplored. The aim of this study was to evaluate the performance of several ML classifiers, trained on radiomic features extracted from DCE–MRI and supported by basic clinical information, for the classification of in situ versus invasive BC lesions. In this study, we retrospectively analysed 71 post-contrast DCE–MRI scans (24 in situ, 47 invasive cases). Radiomic features were extracted from manually segmented tumour regions using the PyRadiomics library, and a limited set of basic clinical variables was also included. Several ML classifiers were evaluated in a Leave-One-Out Cross-Validation (LOOCV) scheme. Feature selection was performed using two different strategies: Minimum Redundancy Maximum Relevance (MRMR), mutual information. Axial 3D rotation was used for data augmentation. Support Vector Machine (SVM), K Nearest Neighbors (KNN), Random Forest (RF), and Extreme Gradient Boosting (XGBoost) were the best-performing models, with an Area Under the Curve (AUC) ranging from 0.77 to 0.81. Notably, KNN achieved the best balance between sensitivity and specificity without the need for data augmentation. Our findings confirm that radiomic features extracted from DCE–MRI, combined with well-validated ML models, can effectively support the differentiation of in situ vs. invasive breast cancer. This approach is quite robust even in small datasets and may aid in improving preoperative planning. Further validation on larger cohorts and integration with additional imaging or clinical data are recommended. Full article
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12 pages, 1637 KB  
Article
Identification of a New Lung Cancer Biomarker Signature Using Data Mining and Preliminary In Vitro Validation
by Ferid Ben Ali, Denis Mustafov, Maria Braoudaki, Sola Adeleke and Iosif Mporas
BioMedInformatics 2025, 5(2), 32; https://doi.org/10.3390/biomedinformatics5020032 - 11 Jun 2025
Cited by 1 | Viewed by 2772
Abstract
Background: Lung adenocarcinoma is one of the major subtype of non-Small Cell Lung Cancer and biomarkers are essential to be identified for early diagnosis. The study aims to find in silico and preliminary in vitro analysis of potential biomarkers for lung adenocarcinoma. Methods [...] Read more.
Background: Lung adenocarcinoma is one of the major subtype of non-Small Cell Lung Cancer and biomarkers are essential to be identified for early diagnosis. The study aims to find in silico and preliminary in vitro analysis of potential biomarkers for lung adenocarcinoma. Methods: Bioinformatics analysis in parallel to data mining analysis was performed on microarray data with lung adenocarcinoma samples to identify potent gene biomarkers associated with lung cancer type. Afterwards, these genes were then validated in vitro using RT-qPCR analysis in cancerous (Calu-3) and non-cancerous (MRC-5) cell lines. Moreover, these genes were used in machine learning-based analysis to classify lung adenocarcinoma samples from controls. The analysis includes three experiments—the bioinformatic (in silico), in vitro, and machine learning analyses. Results: The three experiments identified four genes, namely, SLC15A1, GPR123 (ADGRA1), KCNAB2, and KNDC1, as key biomarkers and the most relevant gene features for distinguishing lung adenocarcinoma from control. Conclusions: This study identifies four biomarkers associated with lung adenocarcinoma through bioinformatics, in vitro and machine learning analyses. These four genes shows strong potential for further investigation in clinical research. Full article
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27 pages, 7222 KB  
Article
Skin Lesion Classification in Head and Neck Cancers Using Tissue Index Images Derived from Hyperspectral Imaging
by Doruntina Hoxha, Aljoša Krt, Jošt Stergar, Tadej Tomanič, Aleš Grošelj, Ivan Štajduhar, Gregor Serša and Matija Milanič
Cancers 2025, 17(10), 1622; https://doi.org/10.3390/cancers17101622 - 11 May 2025
Cited by 6 | Viewed by 1914
Abstract
Background: Skin lesions associated with head and neck carcinomas present a diagnostic challenge. Conventional imaging methods, such as dermoscopy and RGB imaging, often face limitations in providing detailed information about skin lesions and accurately differentiating tumor tissue from healthy skin. Methods: This study [...] Read more.
Background: Skin lesions associated with head and neck carcinomas present a diagnostic challenge. Conventional imaging methods, such as dermoscopy and RGB imaging, often face limitations in providing detailed information about skin lesions and accurately differentiating tumor tissue from healthy skin. Methods: This study developed a novel approach utilizing tissue index images derived from hyperspectral imaging (HSI) in combination with machine learning (ML) classifiers to enhance lesion classification. The primary aim was to identify essential features for categorizing tumor, peritumor, and healthy skin regions using both RGB and hyperspectral data. Detailed skin lesion images of 16 patients, comprising 24 lesions, were acquired using HSI. The first- and second-order statistics radiomic features were extracted from both the tissue index images and RGB images, with the minimum redundancy–maximum relevance (mRMR) algorithm used to select the most relevant ones that played an important role in improving classification accuracy and offering insights into the complexities of skin lesion morphology. We assessed the classification accuracy across three scenarios: using only RGB images (Scenario I), only tissue index images (Scenario II), and their combination (Scenario III). Results: The results indicated an accuracy of 87.73% for RGB images alone, which improved to 91.75% for tissue index images. The area under the curve (AUC) for lesion classifications reached 0.85 with RGB images and over 0.94 with tissue index images. Conclusions: These findings underscore the potential of utilizing HSI-derived tissue index images as a method for the non-invasive characterization of tissues and tumor analysis. Full article
(This article belongs to the Section Cancer Biomarkers)
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11 pages, 1228 KB  
Article
Radiomics Analysis of Whole-Kidney Non-Contrast CT for Early Identification of Chronic Kidney Disease Stages 1–3
by Guirong Zhang, Pan Zhang, Yuwei Xia, Feng Shi, Yuelang Zhang and Dun Ding
Bioengineering 2025, 12(5), 454; https://doi.org/10.3390/bioengineering12050454 - 25 Apr 2025
Cited by 7 | Viewed by 2206
Abstract
Background: The early stages of chronic kidney disease (CKD) are often undetectable on traditional non-contrast computed tomography (NCCT) images through visual assessment by radiologists. This study aims to evaluate the potential of radiomics-based quantitative features extracted from NCCT, combined with machine learning techniques, [...] Read more.
Background: The early stages of chronic kidney disease (CKD) are often undetectable on traditional non-contrast computed tomography (NCCT) images through visual assessment by radiologists. This study aims to evaluate the potential of radiomics-based quantitative features extracted from NCCT, combined with machine learning techniques, in differentiating CKD stages 1–3 from healthy controls. Methods: This retrospective study involved 1099 CKD patients (stages 1–3) and 1099 healthy participants who underwent NCCT. Bilateral kidney volumes of interest were automatically segmented using a deep learning-based segmentation approach (VB-net) on CT images. Radiomics models were constructed using the mean values of features extracted from both kidneys. Key features were selected through Relief, MRMR, and LASSO regression algorithms. A machine learning classifier was trained to differentiate CKD from healthy kidneys and compared with the radiologist assessments. Model performance was evaluated using the area under the curve (AUC) of receiver operating characteristic analysis. Results: In the training set, the AUCs for the Gaussian process (GP) classifier model and radiologist assessments were 0.849 and 0.570, respectively. In the testing set, the AUC values were 0.790 for the GP model and 0.575 for radiologist assessments. Conclusions: The NCCT-based radiomics model demonstrates significant clinical utility by enabling non-invasive, early diagnosis of CKD stages 1–3, outperforming radiologist assessments. Full article
(This article belongs to the Section Biosignal Processing)
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21 pages, 6870 KB  
Article
A Hybrid Feature-Selection Method Based on mRMR and Binary Differential Evolution for Gene Selection
by Kun Yu, Wei Li, Weidong Xie and Linjie Wang
Processes 2024, 12(2), 313; https://doi.org/10.3390/pr12020313 - 1 Feb 2024
Cited by 19 | Viewed by 4922
Abstract
The selection of critical features from microarray data as biomarkers holds significant importance in disease diagnosis and drug development. It is essential to reduce the number of biomarkers while maintaining their performance to effectively minimize subsequent validation costs. However, the processing of microarray [...] Read more.
The selection of critical features from microarray data as biomarkers holds significant importance in disease diagnosis and drug development. It is essential to reduce the number of biomarkers while maintaining their performance to effectively minimize subsequent validation costs. However, the processing of microarray data often encounters the challenge of the “curse of dimensionality”. Existing feature-selection methods face difficulties in effectively reducing feature dimensionality while ensuring classification accuracy, algorithm efficiency, and optimal search space exploration. This paper proposes a hybrid feature-selection algorithm based on an enhanced version of the Max Relevance and Min Redundancy (mRMR) method, coupled with differential evolution. The proposed method improves the quantization functions of mRMR to accommodate the continuous nature of microarray data attributes, utilizing them as the initial step in feature selection. Subsequently, an enhanced differential evolution algorithm is employed to further filter the features. Two adaptive mechanisms are introduced to enhance early search efficiency and late population diversity, thus reducing the number of features and balancing the algorithm’s exploration and exploitation. The results highlight the improved performance and efficiency of the hybrid algorithm in feature selection for microarray data analysis. Full article
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26 pages, 7001 KB  
Article
Identifying Genetic Signatures from Single-Cell RNA Sequencing Data by Matrix Imputation and Reduced Set Gene Clustering
by Soumita Seth, Saurav Mallik, Atikul Islam, Tapas Bhadra, Arup Roy, Pawan Kumar Singh, Aimin Li and Zhongming Zhao
Mathematics 2023, 11(20), 4315; https://doi.org/10.3390/math11204315 - 17 Oct 2023
Cited by 9 | Viewed by 3432
Abstract
In this current era, the identification of both known and novel cell types, the representation of cells, predicting cell fates, classifying various tumor types, and studying heterogeneity in various cells are the key areas of interest in the analysis of single-cell RNA sequencing [...] Read more.
In this current era, the identification of both known and novel cell types, the representation of cells, predicting cell fates, classifying various tumor types, and studying heterogeneity in various cells are the key areas of interest in the analysis of single-cell RNA sequencing (scRNA-seq) data. Due to the nature of the data, cluster identification in single-cell sequencing data with high dimensions presents several difficulties. In this paper, we introduce a new framework that combines various strategies such as imputed matrix, minimum redundancy maximum relevance (MRMR) feature selection, and shrinkage clustering to discover gene signatures from scRNA-seq data. Firstly, we conducted the pre-filtering of the “drop-out” value in the data focusing solely on imputing the identified “drop-out” values. Next, we applied the MRMR feature selection method to the imputed data and obtained the top 100 features based on the MRMR feature selection optimization scores for further downstream analysis. Thereafter, we employed shrinkage clustering on the selected feature matrix to identify the cell clusters using a global optimization approach. Finally, we applied the Limma-Voom R tool employing voom normalization and an empirical Bayes test to detect differentially expressed features with a false discovery rate (FDR) < 0.001. In addition, we performed the KEGG pathway and gene ontology enrichment analysis of the identified biomarkers using David 6.8 software. Furthermore, we conducted miRNA target detection for the top gene markers and performed miRNA target gene interaction network analysis using the Cytoscape online tool. Subsequently, we compared our detected 100 markers with our previously detected top 100 cluster-specified markers ranked by FDR of the latest published article and discovered three common markers; namely, Cyp2b10, Mt1, Alpi, along with 97 novel markers. In addition, the Gene Set Enrichment Analysis (GSEA) of both marker sets also yields similar outcomes. Apart from this, we performed another comparative study with another published method, demonstrating that our model detects more significant markers than that model. To assess the efficiency of our framework, we apply it to another dataset and identify 20 strongly significant up-regulated markers. Additionally, we perform a comparative study of different imputation methods and include an ablation study to prove that every key phase of our framework is essential and strongly recommended. In summary, our proposed integrated framework efficiently discovers differentially expressed stronger gene signatures as well as up-regulated markers in single-cell RNA sequencing data. Full article
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14 pages, 1570 KB  
Article
Development and Evaluation of MR-Based Radiogenomic Models to Differentiate Atypical Lipomatous Tumors from Lipomas
by Sarah C. Foreman, Oscar Llorián-Salvador, Diana E. David, Verena K. N. Rösner, Jon F. Rischewski, Georg C. Feuerriegel, Daniel W. Kramp, Ina Luiken, Ann-Kathrin Lohse, Jurij Kiefer, Carolin Mogler, Carolin Knebel, Matthias Jung, Miguel A. Andrade-Navarro, Burkhard Rost, Stephanie E. Combs, Marcus R. Makowski, Klaus Woertler, Jan C. Peeken and Alexandra S. Gersing
Cancers 2023, 15(7), 2150; https://doi.org/10.3390/cancers15072150 - 5 Apr 2023
Cited by 13 | Viewed by 4322
Abstract
Background: The aim of this study was to develop and validate radiogenomic models to predict the MDM2 gene amplification status and differentiate between ALTs and lipomas on preoperative MR images. Methods: MR images were obtained in 257 patients diagnosed with ALTs (n [...] Read more.
Background: The aim of this study was to develop and validate radiogenomic models to predict the MDM2 gene amplification status and differentiate between ALTs and lipomas on preoperative MR images. Methods: MR images were obtained in 257 patients diagnosed with ALTs (n = 65) or lipomas (n = 192) using histology and the MDM2 gene analysis as a reference standard. The protocols included T2-, T1-, and fat-suppressed contrast-enhanced T1-weighted sequences. Additionally, 50 patients were obtained from a different hospital for external testing. Radiomic features were selected using mRMR. Using repeated nested cross-validation, the machine-learning models were trained on radiomic features and demographic information. For comparison, the external test set was evaluated by three radiology residents and one attending radiologist. Results: A LASSO classifier trained on radiomic features from all sequences performed best, with an AUC of 0.88, 70% sensitivity, 81% specificity, and 76% accuracy. In comparison, the radiology residents achieved 60–70% accuracy, 55–80% sensitivity, and 63–77% specificity, while the attending radiologist achieved 90% accuracy, 96% sensitivity, and 87% specificity. Conclusion: A radiogenomic model combining features from multiple MR sequences showed the best performance in predicting the MDM2 gene amplification status. The model showed a higher accuracy compared to the radiology residents, though lower compared to the attending radiologist. Full article
(This article belongs to the Topic Artificial Intelligence in Cancer, Biology and Oncology)
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25 pages, 5331 KB  
Article
A Hierarchical Deep Learning-Based Intrusion Detection Architecture for Clustered Internet of Things
by Rania Elsayed, Reem Hamada, Mohammad Hammoudeh, Mahmoud Abdalla and Shaimaa Ahmed Elsaid
J. Sens. Actuator Netw. 2023, 12(1), 3; https://doi.org/10.3390/jsan12010003 - 28 Dec 2022
Cited by 47 | Viewed by 5726
Abstract
The Internet of Things (IoT) system’s ever-expanding attack surface calls for a new intrusion detection system (IDS). These systems may include thousands of wireless devices that need to be protected from cyberattacks. Recent research efforts used machine learning to analyze and identify various [...] Read more.
The Internet of Things (IoT) system’s ever-expanding attack surface calls for a new intrusion detection system (IDS). These systems may include thousands of wireless devices that need to be protected from cyberattacks. Recent research efforts used machine learning to analyze and identify various attacks and abnormal behavior on IoT systems. Most of these techniques are characterized by low accuracy and they do not scale to today’s IoT-enabled smart cities applications. This article proposes a secure automatic two-levels intrusion detection system (SATIDS) which utilizes the minimum redundancy maximum relevance (MRMR) feature selection technique and an enhanced version of long short-term memory (LSTM) based on an artificial recurrent neural network (RNN) to enhance the IDS performance. SATIDS aims at detecting traffic anomalies with greater accuracy while also reducing the time it takes to perform this task. The proposed algorithm was trained and evaluated using two of the most recent datasets based on realistic data: ToN-IoT and InSDN datasets. The performance analysis of the proposed system proves that it can differentiate between attacks and normal traffic, identify the attack category, and finally define the type of sub-attack with high accuracy. Comparing the performance of the proposed system with the existing IDSs reveals that it outperforms its best rivals from the literature in detecting many types of attacks. It improves accuracy, detection rates, F1-score, and precision. Using 500 hidden and two LSTM layers achieves accuracy of 97.5%, precision of 98.4%, detection rate of 97.9%, and F1-score of 98.05% on ToN-IoT dataset, and precision of 99%, detection rate of 99.6%, and F1-score of 99.3% on InSDN dataset. Finally, SATIDS was applied to an IoT network which utilizes the energy harvesting real-time routing protocol (EHRT). EHRT optimizes the low-energy adaptive clustering hierarchy (LEACH) routing technique using a modified artificial fish swarm algorithm. The integration between the optimized LEACH and the proposed IDS enhances the network lifetime, energy consumption, and security. Full article
(This article belongs to the Section Wireless Control Networks)
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21 pages, 5546 KB  
Article
Identifying MicroRNA Markers That Predict COVID-19 Severity Using Machine Learning Methods
by Jingxin Ren, Wei Guo, Kaiyan Feng, Tao Huang and Yudong Cai
Life 2022, 12(12), 1964; https://doi.org/10.3390/life12121964 - 23 Nov 2022
Cited by 13 | Viewed by 2907
Abstract
Individuals with the SARS-CoV-2 infection may experience a wide range of symptoms, from being asymptomatic to having a mild fever and cough to a severe respiratory impairment that results in death. MicroRNA (miRNA), which plays a role in the antiviral effects of SARS-CoV-2 [...] Read more.
Individuals with the SARS-CoV-2 infection may experience a wide range of symptoms, from being asymptomatic to having a mild fever and cough to a severe respiratory impairment that results in death. MicroRNA (miRNA), which plays a role in the antiviral effects of SARS-CoV-2 infection, has the potential to be used as a novel marker to distinguish between patients who have various COVID-19 clinical severities. In the current study, the existing blood expression profiles reported in two previous studies were combined for deep analyses. The final profiles contained 1444 miRNAs in 375 patients from six categories, which were as follows: 30 patients with mild COVID-19 symptoms, 81 patients with moderate COVID-19 symptoms, 30 non-COVID-19 patients with mild symptoms, 137 patients with severe COVID-19 symptoms, 31 non-COVID-19 patients with severe symptoms, and 66 healthy controls. An efficient computational framework containing four feature selection methods (LASSO, LightGBM, MCFS, and mRMR) and four classification algorithms (DT, KNN, RF, and SVM) was designed to screen clinical miRNA markers, and a high-precision RF model with a 0.780 weighted F1 was constructed. Some miRNAs, including miR-24-3p, whose differential expression was discovered in patients with acute lung injury complications brought on by severe COVID-19, and miR-148a-3p, differentially expressed against SARS-CoV-2 structural proteins, were identified, thereby suggesting the effectiveness and accuracy of our framework. Meanwhile, we extracted classification rules based on the DT model for the quantitative representation of the role of miRNA expression in differentiating COVID-19 patients with different severities. The search for novel biomarkers that could predict the severity of the disease could aid in the clinical diagnosis of COVID-19 and in exploring the specific mechanisms of the complications caused by SARS-CoV-2 infection. Moreover, new therapeutic targets for the disease may be found. Full article
(This article belongs to the Section Epidemiology)
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