BioMedInformatics最新文献

{"title":"Automated Classification of Collateral Circulation for Ischemic Stroke in Cone-Beam CT Images Using VGG11: A Deep Learning Approach","authors":"Nur Hasanah Ali, Abdul Rahim Abdullah, N. Saad, A. Muda, Ervina Efzan Mhd Noor","doi":"10.3390/biomedinformatics4030091","DOIUrl":"https://doi.org/10.3390/biomedinformatics4030091","url":null,"abstract":"Background: Ischemic stroke poses significant challenges in diagnosis and treatment, necessitating efficient and accurate methods for assessing collateral circulation, a critical determinant of patient prognosis. Manual classification of collateral circulation in ischemic stroke using traditional imaging techniques is labor-intensive and prone to subjectivity. This study presented the automated classification of collateral circulation patterns in cone-beam CT (CBCT) images, utilizing the VGG11 architecture. Methods: The study utilized a dataset of CBCT images from ischemic stroke patients, accurately labeled with their respective collateral circulation status. To ensure uniformity and comparability, image normalization was executed during the preprocessing phase to standardize pixel values to a consistent scale or range. Then, the VGG11 model is trained using an augmented dataset and classifies collateral circulation patterns. Results: Performance evaluation of the proposed approach demonstrates promising results, with the model achieving an accuracy of 58.32%, a sensitivity of 75.50%, a specificity of 44.10%, a precision of 52.70%, and an F1 score of 62.10% in classifying collateral circulation patterns. Conclusions: This approach automates classification, potentially reducing diagnostic delays and improving patient outcomes. It also lays the groundwork for future research in using deep learning for better stroke diagnosis and management. This study is a significant advancement toward developing practical tools to assist doctors in making informed decisions for ischemic stroke patients.","PeriodicalId":72394,"journal":{"name":"BioMedInformatics","volume":" 16","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141668744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ensemble of HMMs for Sequence Prediction on Multivariate Biomedical Data","authors":"Richard Fechner, Jens Dörpinghaus, R. Rockenfeller, Jennifer Faber","doi":"10.3390/biomedinformatics4030090","DOIUrl":"https://doi.org/10.3390/biomedinformatics4030090","url":null,"abstract":"Background: Biomedical data are usually collections of longitudinal data assessed at certain points in time. Clinical observations assess the presences and severity of symptoms, which are the basis for the description and modeling of disease progression. Deciphering potential underlying unknowns from the distinct observation would substantially improve the understanding of pathological cascades. Hidden Markov Models (HMMs) have been successfully applied to the processing of possibly noisy continuous signals. We apply ensembles of HMMs to categorically distributed multivariate time series data, leaving space for expert domain knowledge in the prediction process. Methods: We use an ensemble of HMMs to predict the loss of free walking ability as one major clinical deterioration in the most common autosomal dominantly inherited ataxia disorder worldwide. Results: We present a prediction pipeline that processes data paired with a configuration file, enabling us to train, validate and query an ensemble of HMMs. In particular, we provide a theoretical and practical framework for multivariate time-series inference based on HMMs that includes constructing multiple HMMs, each to predict a particular observable variable. Our analysis is conducted on pseudo-data, but also on biomedical data based on Spinocerebellar ataxia type 3 disease. Conclusions: We find that the model shows promising results for the data we tested. The strength of this approach is that HMMs are well understood, probabilistic and interpretable models, setting it apart from most Deep Learning approaches. We publish all code and evaluation pseudo-data in an open-source repository.","PeriodicalId":72394,"journal":{"name":"BioMedInformatics","volume":"47 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141682174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Machine Learning for Extraction of Image Features Associated with Progression of Geographic Atrophy","authors":"J. Arslan, Kurt Benke","doi":"10.3390/biomedinformatics4030089","DOIUrl":"https://doi.org/10.3390/biomedinformatics4030089","url":null,"abstract":"Background: Several studies have investigated various features and models in order to understand the growth and progression of the ocular disease geographic atrophy (GA). Commonly assessed features include age, sex, smoking, alcohol consumption, sedentary lifestyle, hypertension, and diabetes. There have been inconsistencies regarding which features correlate with GA progression. Chief amongst these inconsistencies is whether the investigated features are readily available for analysis across various ophthalmic institutions. Methods:In this study, we focused our attention on the association of fundus autofluorescence (FAF) imaging features and GA progression. Our method included feature extraction using radiomic processes and feature ranking by machine learning incorporating the algorithm XGBoost to determine the best-ranked features. This led to the development of an image-based linear mixed-effects model, which was designed to account for slope change based on within-subject variability and inter-eye correlation. Metrics used to assess the linear mixed-effects model included marginal and conditional R2, Pearson’s correlation coefficient (r), root mean square error (RMSE), mean error (ME), mean absolute error (MAE), mean absolute deviation (MAD), the Akaike Information Criterion (AIC), the Bayesian Information Criterion (BIC), and loglikelihood. Results: We developed a linear mixed-effects model with 15 image-based features. The model results were as follows: R2 = 0.96, r = 0.981, RMSE = 1.32, ME = −7.3 × 10−15, MAE = 0.94, MAD = 0.999, AIC = 2084.93, BIC = 2169.97, and log likelihood = −1022.46. Conclusions: The advantage of our method is that it relies on the inherent properties of the image itself, rather than the availability of clinical or demographic data. Thus, the image features discovered in this study are universally and readily available across the board.","PeriodicalId":72394,"journal":{"name":"BioMedInformatics","volume":"30 46","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141685211","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advancing DNA Language Models through Motif-Oriented Pre-Training with MoDNA","authors":"Weizhi An, Yuzhi Guo, Yatao Bian, Hehuan Ma, Jinyu Yang, Chunyuan Li, Junzhou Huang","doi":"10.3390/biomedinformatics4020085","DOIUrl":"https://doi.org/10.3390/biomedinformatics4020085","url":null,"abstract":"Acquiring meaningful representations of gene expression is essential for the accurate prediction of downstream regulatory tasks, such as identifying promoters and transcription factor binding sites. However, the current dependency on supervised learning, constrained by the limited availability of labeled genomic data, impedes the ability to develop robust predictive models with broad generalization capabilities. In response, recent advancements have pivoted towards the application of self-supervised training for DNA sequence modeling, enabling the adaptation of pre-trained genomic representations to a variety of downstream tasks. Departing from the straightforward application of masked language learning techniques to DNA sequences, approaches such as MoDNA enrich genome language modeling with prior biological knowledge. In this study, we advance DNA language models by utilizing the Motif-oriented DNA (MoDNA) pre-training framework, which is established for self-supervised learning at the pre-training stage and is flexible enough for application across different downstream tasks. MoDNA distinguishes itself by efficiently learning semantic-level genomic representations from an extensive corpus of unlabeled genome data, offering a significant improvement in computational efficiency over previous approaches. The framework is pre-trained on a comprehensive human genome dataset and fine-tuned for targeted downstream tasks. Our enhanced analysis and evaluation in promoter prediction and transcription factor binding site prediction have further validated MoDNA’s exceptional capabilities, emphasizing its contribution to advancements in genomic predictive modeling.","PeriodicalId":72394,"journal":{"name":"BioMedInformatics","volume":"128 32","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141351387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Utilizing Immunoinformatics for mRNA Vaccine Design against Influenza D Virus","authors":"E. K. Oladipo, Stephen Feranmi Adeyemo, M. Akinboade, Temitope Michael Akinleye, Kehinde Favour Siyanbola, Precious Ayomide Adeogun, Victor Michael Ogunfidodo, Christiana Adewumi Adekunle, Olubunmi Ayobami Elutade, Esther Eghogho Omoathebu, Blessing Oluwatunmise Taiwo, Elizabeth Olawumi Akindiya, Lucy Ochola, H. Onyeaka","doi":"10.3390/biomedinformatics4020086","DOIUrl":"https://doi.org/10.3390/biomedinformatics4020086","url":null,"abstract":"Background: Influenza D Virus (IDV) presents a possible threat to animal and human health, necessitating the development of effective vaccines. Although no human illness linked to IDV has been reported, the possibility of human susceptibility to infection remains uncertain. Hence, there is a need for an animal vaccine to be designed. Such a vaccine will contribute to preventing and controlling IDV outbreaks and developing effective countermeasures against this emerging pathogen. This study, therefore, aimed to design an mRNA vaccine construct against IDV using immunoinformatic methods and evaluate its potential efficacy. Methods: A comprehensive methodology involving epitope prediction, vaccine construction, and structural analysis was employed. Viral sequences from six continents were collected and analyzed. A total of 88 Hemagglutinin Esterase Fusion (HEF) sequences from IDV isolates were obtained, of which 76 were identified as antigenic. Different bioinformatics tools were used to identify preferred CTL, HTL, and B-cell epitopes. The epitopes underwent thorough analysis, and those that can induce a lasting immunological response were selected for the construction. Results: The vaccine prototype comprised nine epitopes, an adjuvant, MHC I-targeting domain (MITD), Kozaq, 3′ UTR, 5′ UTR, and specific linkers. The mRNA vaccine construct exhibited antigenicity, non-toxicity, and non-allergenicity, with favourable physicochemical properties. The secondary and tertiary structure analyses revealed a stable and accurate vaccine construct. Molecular docking simulations also demonstrated strong binding affinity with toll-like receptors. Conclusions: The study provides a promising framework for developing an effective mRNA vaccine against IDV, highlighting its potential for mitigating the global impact of this viral infection. Further experimental studies are needed to confirm the vaccine’s efficacy and safety.","PeriodicalId":72394,"journal":{"name":"BioMedInformatics","volume":"109 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141352150","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Calibrating Glucose Sensors at the Edge: A Stress Generation Model for Tiny ML Drift Compensation","authors":"Anna Sabatini, Costanza Cenerini, Luca Vollero, D. Pau","doi":"10.3390/biomedinformatics4020083","DOIUrl":"https://doi.org/10.3390/biomedinformatics4020083","url":null,"abstract":"Background: Continuous glucose monitoring (CGM) systems offer the advantage of noninvasive monitoring and continuous data on glucose fluctuations. This study introduces a new model that enables the generation of synthetic but realistic databases that integrate physiological variables and sensor attributes into a dataset generation model and this, in turn, enables the design of improved CGM systems. Methods: The presented approach uses a combination of physiological data and sensor characteristics to construct a model that considers the impact of these variables on the accuracy of CGM measures. A dataset of 500 sensor responses over a 15-day period is generated and analyzed using machine learning algorithms (random forest regressor and support vector regressor). Results: The random forest and support vector regression models achieved Mean Absolute Errors (MAEs) of 16.13 mg/dL and 16.22 mg/dL, respectively. In contrast, models trained solely on single sensor outputs recorded an average MAE of 11.01±5.12 mg/dL. These findings demonstrate the variable impact of integrating multiple data sources on the predictive accuracy of CGM systems, as well as the complexity of the dataset. Conclusions: This approach provides a foundation for developing more precise algorithms and introduces its initial application of Tiny Machine Control Units (MCUs). More research is recommended to refine these models and validate their effectiveness in clinical settings.","PeriodicalId":72394,"journal":{"name":"BioMedInformatics","volume":" 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141367813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Understanding the Molecular Actions of Spike Glycoprotein in SARS-CoV-2 and Issues of a Novel Therapeutic Strategy for the COVID-19 Vaccine","authors":"Y. Matsuzaka, R. Yashiro","doi":"10.3390/biomedinformatics4020084","DOIUrl":"https://doi.org/10.3390/biomedinformatics4020084","url":null,"abstract":"In vaccine development, many use the spike protein (S protein), which has multiple “spike-like” structures protruding from the spherical structure of the coronavirus, as an antigen. However, there are concerns about its effectiveness and toxicity. When S protein is used in a vaccine, its ability to attack viruses may be weak, and its effectiveness in eliciting immunity will only last for a short period of time. Moreover, it may cause “antibody-dependent immune enhancement”, which can enhance infections. In addition, the three-dimensional (3D) structure of epitopes is essential for functional analysis and structure-based vaccine design. Additionally, during viral infection, large amounts of extracellular vesicles (EVs) are secreted from infected cells, which function as a communication network between cells and coordinate the response to infection. Under conditions where SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) molecular vaccination produces overwhelming SARS-CoV-2 spike glycoprotein, a significant proportion of the overproduced intracellular spike glycoprotein is transported via EVs. Therefore, it will be important to understand the infection mechanisms of SARA-CoV-2 via EV-dependent and EV-independent uptake into cells and to model the infection processes based on 3D structural features at interaction sites.","PeriodicalId":72394,"journal":{"name":"BioMedInformatics","volume":" 38","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141367081","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anomaly Detection and Artificial Intelligence Identified the Pathogenic Role of Apoptosis and RELB Proto-Oncogene, NF-kB Subunit in Diffuse Large B-Cell Lymphoma","authors":"J. Carreras, R. Hamoudi","doi":"10.3390/biomedinformatics4020081","DOIUrl":"https://doi.org/10.3390/biomedinformatics4020081","url":null,"abstract":"Background: Diffuse large B-cell lymphoma (DLBCL) is one of the most frequent lymphomas. DLBCL is phenotypically, genetically, and clinically heterogeneous. Aim: We aim to identify new prognostic markers. Methods: We performed anomaly detection analysis, other artificial intelligence techniques, and conventional statistics using gene expression data of 414 patients from the Lymphoma/Leukemia Molecular Profiling Project (GSE10846), and immunohistochemistry in 10 reactive tonsils and 30 DLBCL cases. Results: First, an unsupervised anomaly detection analysis pinpointed outliers (anomalies) in the series, and 12 genes were identified: DPM2, TRAPPC1, HYAL2, TRIM35, NUDT18, TMEM219, CHCHD10, IGFBP7, LAMTOR2, ZNF688, UBL7, and RELB, which belonged to the apoptosis, MAPK, MTOR, and NF-kB pathways. Second, these 12 genes were used to predict overall survival using machine learning, artificial neural networks, and conventional statistics. In a multivariate Cox regression analysis, high expressions of HYAL2 and UBL7 were correlated with poor overall survival, whereas TRAPPC1, IGFBP7, and RELB were correlated with good overall survival (p < 0.01). As a single marker and only in RCHOP-like treated cases, the prognostic value of RELB was confirmed using GSEA analysis and Kaplan–Meier with log-rank test and validated in the TCGA and GSE57611 datasets. Anomaly detection analysis was successfully tested in the GSE31312 and GSE117556 datasets. Using immunohistochemistry, RELB was positive in B-lymphocytes and macrophage/dendritic-like cells, and correlation with HLA DP-DR, SIRPA, CD85A (LILRB3), PD-L1, MARCO, and TOX was explored. Conclusions: Anomaly detection and other bioinformatic techniques successfully predicted the prognosis of DLBCL, and high RELB was associated with a favorable prognosis.","PeriodicalId":72394,"journal":{"name":"BioMedInformatics","volume":"18 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141375619","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Abdominal MRI Unconditional Synthesis with Medical Assessment","authors":"Bernardo Gonçalves, Mariana Silva, Luísa Vieira, Pedro Vieira","doi":"10.3390/biomedinformatics4020082","DOIUrl":"https://doi.org/10.3390/biomedinformatics4020082","url":null,"abstract":"Current computer vision models require a significant amount of annotated data to improve their performance in a particular task. However, obtaining the required annotated data is challenging, especially in medicine. Hence, data augmentation techniques play a crucial role. In recent years, generative models have been used to create artificial medical images, which have shown promising results. This study aimed to use a state-of-the-art generative model, StyleGAN3, to generate realistic synthetic abdominal magnetic resonance images. These images will be evaluated using quantitative metrics and qualitative assessments by medical professionals. For this purpose, an abdominal MRI dataset acquired at Garcia da Horta Hospital in Almada, Portugal, was used. A subset containing only axial gadolinium-enhanced slices was used to train the model. The obtained Fréchet inception distance value (12.89) aligned with the state of the art, and a medical expert confirmed the significant realism and quality of the images. However, specific issues were identified in the generated images, such as texture variations, visual artefacts and anatomical inconsistencies. Despite these, this work demonstrated that StyleGAN3 is a viable solution to synthesise realistic medical imaging data, particularly in abdominal imaging.","PeriodicalId":72394,"journal":{"name":"BioMedInformatics","volume":" 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141373128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Physiological Data Augmentation for Eye Movement Gaze in Deep Learning","authors":"Alae Eddine El Hmimdi, Zoï Kapoula","doi":"10.3390/biomedinformatics4020080","DOIUrl":"https://doi.org/10.3390/biomedinformatics4020080","url":null,"abstract":"In this study, the challenges posed by limited annotated medical data in the field of eye movement AI analysis are addressed through the introduction of a novel physiologically based gaze data augmentation library. Unlike traditional augmentation methods, which may introduce artifacts and alter pathological features in medical datasets, the proposed library emulates natural head movements during gaze data collection. This approach enhances sample diversity without compromising authenticity. The library evaluation was conducted on both CNN and hybrid architectures using distinct datasets, demonstrating its effectiveness in regularizing the training process and improving generalization. What is particularly noteworthy is the achievement of a macro F1 score of up to 79% when trained using the proposed augmentation (EMULATE) with the three HTCE variants. This pioneering approach leverages domain-specific knowledge to contribute to the robustness and authenticity of deep learning models in the medical domain.","PeriodicalId":72394,"journal":{"name":"BioMedInformatics","volume":"14 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141380161","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}