Manoj B. Chandak, Abhijeet R. Raipurkar, Sunita G. Rawat
{"title":"结合多组学和临床数据的上位分位数融合变压器网络预测系统性红斑狼疮","authors":"Manoj B. Chandak, Abhijeet R. Raipurkar, Sunita G. Rawat","doi":"10.1016/j.compbiolchem.2025.108617","DOIUrl":null,"url":null,"abstract":"<div><div>Systemic Lupus Erythematosus (SLE) is a complex autoimmune disorder with heterogeneous symptoms and overlapping clinical presentations, making early prediction extremely difficult. Traditional models often fail to integrate high-dimensional multi-omics data and EHR records effectively, primarily due to their inability to handle biological variability, data imbalance, and complex feature dependencies. To address these gaps, the study proposes Epistatic-Quantile Fusion Transformer (EQF-T), a unified framework that introduces multiple novel components. Initially, for pre-processing, the Beta-Variational Rank-ordered Quantile Autoencoder (Beta-VARQA) is used, which combines Beta-divergence, Rank-ordered Quantile Filtering, and Variational Autoencoding to denoise and normalize heterogeneous inputs, retaining biologically significant patterns. For feature extraction, the framework incorporates Epistatic Attention fused Multi-Omics Laplacian Transformer (EA-MLT), which captures intricate dependencies and Epistatic Synergistic effects, essential for understanding the dynamic progression of SLE. This EA-MLT employs Epistatic Attention to capture higher-order gene-gene interactions and integrates the Multi-Omics Laplacian Transformer (MOLT), which uses a Laplacian Attention Mechanism to model structural dependencies across omics layers. The final classification is performed by SLE-Net (SLE Prediction Network), an end-to-end deep learning model designed to analyze fused data and provide interpretable outputs. Together, these components enable EQF-T to effectively learn from complex, high-dimensional biological and clinical data. Further, the proposed model achieves superior performance with 99.82 % accuracy, 99.78 % precision, 99.76 % recall, 99.77 % F1-score, and 99.8 % ROC-AUC, demonstrating its reliability and potential for precise SLE prediction.</div></div>","PeriodicalId":10616,"journal":{"name":"Computational Biology and Chemistry","volume":"120 ","pages":"Article 108617"},"PeriodicalIF":3.1000,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Systemic Lupus Erythematosus prediction using Epistatic-Quantile Fusion Transformer network with integrated multi-omics and clinical data\",\"authors\":\"Manoj B. Chandak, Abhijeet R. Raipurkar, Sunita G. Rawat\",\"doi\":\"10.1016/j.compbiolchem.2025.108617\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Systemic Lupus Erythematosus (SLE) is a complex autoimmune disorder with heterogeneous symptoms and overlapping clinical presentations, making early prediction extremely difficult. Traditional models often fail to integrate high-dimensional multi-omics data and EHR records effectively, primarily due to their inability to handle biological variability, data imbalance, and complex feature dependencies. To address these gaps, the study proposes Epistatic-Quantile Fusion Transformer (EQF-T), a unified framework that introduces multiple novel components. Initially, for pre-processing, the Beta-Variational Rank-ordered Quantile Autoencoder (Beta-VARQA) is used, which combines Beta-divergence, Rank-ordered Quantile Filtering, and Variational Autoencoding to denoise and normalize heterogeneous inputs, retaining biologically significant patterns. For feature extraction, the framework incorporates Epistatic Attention fused Multi-Omics Laplacian Transformer (EA-MLT), which captures intricate dependencies and Epistatic Synergistic effects, essential for understanding the dynamic progression of SLE. This EA-MLT employs Epistatic Attention to capture higher-order gene-gene interactions and integrates the Multi-Omics Laplacian Transformer (MOLT), which uses a Laplacian Attention Mechanism to model structural dependencies across omics layers. The final classification is performed by SLE-Net (SLE Prediction Network), an end-to-end deep learning model designed to analyze fused data and provide interpretable outputs. Together, these components enable EQF-T to effectively learn from complex, high-dimensional biological and clinical data. Further, the proposed model achieves superior performance with 99.82 % accuracy, 99.78 % precision, 99.76 % recall, 99.77 % F1-score, and 99.8 % ROC-AUC, demonstrating its reliability and potential for precise SLE prediction.</div></div>\",\"PeriodicalId\":10616,\"journal\":{\"name\":\"Computational Biology and Chemistry\",\"volume\":\"120 \",\"pages\":\"Article 108617\"},\"PeriodicalIF\":3.1000,\"publicationDate\":\"2025-08-05\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Computational Biology and Chemistry\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1476927125002786\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Computational Biology and Chemistry","FirstCategoryId":"99","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1476927125002786","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"BIOLOGY","Score":null,"Total":0}
Systemic Lupus Erythematosus prediction using Epistatic-Quantile Fusion Transformer network with integrated multi-omics and clinical data
Systemic Lupus Erythematosus (SLE) is a complex autoimmune disorder with heterogeneous symptoms and overlapping clinical presentations, making early prediction extremely difficult. Traditional models often fail to integrate high-dimensional multi-omics data and EHR records effectively, primarily due to their inability to handle biological variability, data imbalance, and complex feature dependencies. To address these gaps, the study proposes Epistatic-Quantile Fusion Transformer (EQF-T), a unified framework that introduces multiple novel components. Initially, for pre-processing, the Beta-Variational Rank-ordered Quantile Autoencoder (Beta-VARQA) is used, which combines Beta-divergence, Rank-ordered Quantile Filtering, and Variational Autoencoding to denoise and normalize heterogeneous inputs, retaining biologically significant patterns. For feature extraction, the framework incorporates Epistatic Attention fused Multi-Omics Laplacian Transformer (EA-MLT), which captures intricate dependencies and Epistatic Synergistic effects, essential for understanding the dynamic progression of SLE. This EA-MLT employs Epistatic Attention to capture higher-order gene-gene interactions and integrates the Multi-Omics Laplacian Transformer (MOLT), which uses a Laplacian Attention Mechanism to model structural dependencies across omics layers. The final classification is performed by SLE-Net (SLE Prediction Network), an end-to-end deep learning model designed to analyze fused data and provide interpretable outputs. Together, these components enable EQF-T to effectively learn from complex, high-dimensional biological and clinical data. Further, the proposed model achieves superior performance with 99.82 % accuracy, 99.78 % precision, 99.76 % recall, 99.77 % F1-score, and 99.8 % ROC-AUC, demonstrating its reliability and potential for precise SLE prediction.
期刊介绍:
Computational Biology and Chemistry publishes original research papers and review articles in all areas of computational life sciences. High quality research contributions with a major computational component in the areas of nucleic acid and protein sequence research, molecular evolution, molecular genetics (functional genomics and proteomics), theory and practice of either biology-specific or chemical-biology-specific modeling, and structural biology of nucleic acids and proteins are particularly welcome. Exceptionally high quality research work in bioinformatics, systems biology, ecology, computational pharmacology, metabolism, biomedical engineering, epidemiology, and statistical genetics will also be considered.
Given their inherent uncertainty, protein modeling and molecular docking studies should be thoroughly validated. In the absence of experimental results for validation, the use of molecular dynamics simulations along with detailed free energy calculations, for example, should be used as complementary techniques to support the major conclusions. Submissions of premature modeling exercises without additional biological insights will not be considered.
Review articles will generally be commissioned by the editors and should not be submitted to the journal without explicit invitation. However prospective authors are welcome to send a brief (one to three pages) synopsis, which will be evaluated by the editors.