Current Bioinformatics - Volume 20, Issue 4, 2025
Volume 20, Issue 4, 2025
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Mining Transcriptional Data for Precision Medicine: Bioinformatics Insights into Inflammatory Bowel Disease
Inflammatory Bowel Disease (IBD), encompassing ulcerative colitis and Crohn’s disease, affects millions worldwide. Characterized by a complex interplay of genetic, microbial, and environmental factors, IBD challenges conventional treatment approaches, necessitating precision medicine. This paper reviews the role of bioinformatics in leveraging transcriptional data for novel IBD diagnostics and therapeutics. It highlights the genomic landscape of IBD, focusing on genetic factors and insights from genome-wide association studies. The interrelation between the gut microbiome and host transcriptional responses in IBD is examined, emphasizing the use of bioinformatics tools in deciphering these interactions. Our study synthesizes developments in transcriptomics and proteomics, revealing aberrant gene and protein expression patterns linked to IBD pathogenesis. We advocate for the integration of multi-omics data, underscoring the complexity and necessity of bioinformatics in interpreting these datasets. This approach paves the way for personalized treatment strategies, improved disease prognosis, and enhanced patient care. The insights provided offer a comprehensive overview of IBD, highlighting bioinformatics as key in advancing personalized healthcare in IBD management.
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Multimodal Deep Learning for Cancer Survival Prediction: A Review
Authors: Ge Zhang, Chenwei Ma, Chaokun Yan, Huimin Luo, Jianlin Wang, Wenjuan Liang and Junwei LuoBackgroundCancer has emerged as the “leading killer” of human health. Survival prediction is a crucial branch of cancer prognosis. It aims to estimate patients' survival risk based on their disease conditions. Accurate and efficient survival prediction is vital in cancer patients' treatment and clinical management, preventing unnecessary suffering and conserving precious medical resources. Deep learning has been extensively applied in cancer diagnosis, prognosis, and treatment management. The decreasing cost of next-generation sequencing, continuous development of related databases, and in-depth research on multimodal deep learning have provided opportunities for establishing more functionally rich and accurate survival prediction models.
ObjectiveThe current area of cancer survival prediction still lacks a review of multimodal deep learning methods.
MethodsWe conducted a statistical analysis of the relevant research on multimodal deep learning for cancer survival prediction. We first filtered keywords from 6 known relevant papers. Then, we searched PubMed and Google Scholar for relevant publications from 2018 to 2022 using “Multimodal”, “Deep Learning” and “Cancer Survival Prediction” as keywords. Then, we further searched the related publications through the backward and forward citation search. Subsequently, we conducted a detailed analysis and review of these studies based on their datasets and methods.
ResultsWe present a comprehensive systematic review of the multimodal deep learning research on cancer survival prediction from 2018 to 2022.
ConclusionMultimodal deep learning has demonstrated powerful data aggregation capabilities and excellent performance in improving cancer survival prediction greatly. It has made a significant positive impact on facilitating the advancement of automated cancer diagnosis and precision oncology.
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A Comparative Review and Analysis of Computational Predictors for Identification of Enhancer and their Strength
Authors: Mehwish Gill, Muhammad Kabir, Saeed Ahmed, Muhammad Asif Subhani and Maqsood HayatEnhancers are the short functional regions (50–1500bp) in the genome, which play an effective character in activating gene-transcription in the presence of transcription-factors. Many human diseases, such as cancer and inflammatory bowel disease, are correlated with the enhancers’ genetic variations. The precise recognition of the enhancers provides useful insights for understanding the pathogenesis of human diseases and their treatments. High-throughput experiments are considered essential tools for characterizing enhancers; however, these methods are laborious, costly and time-consuming. Computational methods are considered alternative solutions for accurate and rapid identification of the enhancers. Over the past years, numerous computational predictors have been devised for predicting enhancers and their strength. A comprehensive review and thorough assessment are indispensable to systematically compare sequence-based enhancer’s bioinformatics tools on their performance. Giving the increasing interest in this domain, we conducted a large-scale analysis and assessment of the state-of-the-art enhancer predictors to evaluate their scalability and generalization power. Additionally, we classified the existing approaches into three main groups: conventional machine-learning, ensemble and deep learning-based approaches. Furthermore, the study has focused on exploring the important factors that are crucial for developing precise and reliable predictors such as designing trusted benchmark/independent datasets, feature representation schemes, feature selection methods, classification strategies, evaluation metrics and webservers. Finally, the insights from this review are expected to provide important guidelines to the research community and pharmaceutical companies in general and high-throughput tools for the detection and characterization of enhancers in particular.
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LBSA-DRIVER: A Novel Approach to Identify Cancer Driver Genes Using List-Based Simulated Annealing
Authors: Yilmaz Atay, Lionel Alangeh Ngobesing and Mustafa Ozgur CingizIntroductionCancer driver genes are genes responsible for cancer genesis; thus, identifying cancer-related genes is crucial in fostering cancer treatment. The accuracy in identifying cancer driver genes within the vast pool of normal passenger genes directly influences the efficacy of treatment approaches.
ObjectiveThis research aimed to effectively identify cancer driver genes using the List-based Simulated Annealing (LBSA) optimization technique.
MethodsThe proposed model (LBSA-DRIVER) harnesses a list-based simulated annealing algorithm within a bipartite network to pinpoint cancer driver genes. The process begins with creating a bipartite graph that integrates gene mutations and expression data from carefully chosen datasets. The LBSA algorithm is then applied to the generated graph to identify and rank the genes, drawing insights from a biological interaction network.
ResultsFollowing the algorithm's development, rigorous experimental analyses have been conducted using four benchmark datasets from The Cancer Genome Atlas (TCGA) database. The datasets used were the Breast Cancer dataset (BRCA), Prostate Adenocarcinoma dataset (PRAD), Ovarian cancer dataset (OV), and Glioblastoma Multiforme dataset (GBM).
ConclusionOur findings, including precision, recall, F-score, and accuracy metrics, provide strong evidence of the effectiveness of the proposed model in identifying driver genes.
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Identifying Key Clinical Indicators Associated with the Risk of Death in Hospitalized COVID-19 Patients
Authors: QingLan Ma, Jingxin Ren, Lei Chen, Wei Guo, KaiYan Feng, Tao Huang and Yu-Dong CaiBackgroundAccurately predicting survival in hospitalized COVID-19 patients is crucial but challenging due to multiple risk factors. This study addresses the limitations of existing research by proposing a comprehensive machine-learning framework to identify key mortality risk factors and develop a robust predictive model.
ObjectiveThis study proposes an analytical framework that leverages various machine learning techniques to predict the survival of hospitalized COVID-19 patients accurately. The framework comprehensively evaluates multiple clinical indicators and their associations with mortality risk.
MethodsPatient data, including gender, age, health condition, and smoking habits, was divided into discharged (n=507) and deceased (n=300) categories. Each patient was characterized by 92 clinical features. The framework incorporated seven feature ranking algorithms (LASSO, LightGBM, MCFS, mRMR, RF, CATBoost, and XGBoost), the IFS method, and four classification algorithms (DT, KNN, RF, and SVM).
ResultsAge, diabetes, dyspnea, chronic kidney failure, and high blood pressure were identified as the most important risk factors. The best model achieved an F1-score of 0.857 using KNN with 34 selected features.
ConclusionOur findings provide a comprehensive analysis of COVID-19 mortality risk factors and develops a robust predictive model. The findings highlight the increased risk in patients with comorbidities, consistent with existing literature. The proposed framework can aid in developing personalized treatment plans and allocating healthcare resources effectively.
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Volumes & issues
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Volume 20 (2025)
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Volume 19 (2024)
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Volume 18 (2023)
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Volume 17 (2022)
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Volume 16 (2021)
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Volume 15 (2020)
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Volume 14 (2019)
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Volume 13 (2018)
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Volume 12 (2017)
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Volume 11 (2016)
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Volume 10 (2015)
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Volume 9 (2014)
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Volume 8 (2013)
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Volume 7 (2012)
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Volume 6 (2011)
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Volume 5 (2010)
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Volume 4 (2009)
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Volume 3 (2008)
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Volume 2 (2007)
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Volume 1 (2006)
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