Editor's Choices Series for Methods in Biomedical Informatics Section

A special issue of BioMedInformatics (ISSN 2673-7426). This special issue belongs to the section "Methods in Biomedical Informatics".

Deadline for manuscript submissions: closed (31 December 2024) | Viewed by 11786

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LS2_10—Bioinformatics, Università degli Studi di Verona, 37129 Verona, Italy
Interests: bioinformatics; computational biology; medical imaging analysis; artificial intelligence; machine learning; data analysis; personalized medicine; predictive modeling; healthcare innovation; methodological advancements
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Special Issue Information

Dear Colleagues,

The Editor's Choice Series for Methods in Biomedical Informatics Section presents an insightful compilation of cutting-edge methodologies pivotal in the convergence of biomedical science and informatics. This curated selection encompasses an array of innovative techniques, tools, and approaches instrumental in advancing biomedical research, clinical practice, and healthcare innovation.

Spanning diverse domains such as bioinformatics, computational biology, medical imaging analysis, artificial intelligence, and machine learning, this series delves into the methodologies reshaping the landscape of informatics in healthcare. From sophisticated algorithms for data analysis to pioneering strategies in personalized medicine and predictive modeling, this collection encapsulates the dynamic evolution of the methods driving transformative impacts.

Please note that this series does not accept submissions of brief reports, but focuses on the in-depth exploration and analysis of methodologies and their application in the biomedical informatics domain.

Prof. Dr. Rosalba Giugno
Guest Editor

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Keywords

  • bioinformatics
  • computational biology
  • medical imaging analysis
  • artificial intelligence
  • machine learning
  • data analysis
  • personalized medicine
  • predictive modeling
  • healthcare innovation
  • methodological advancements

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Published Papers (8 papers)

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Research

21 pages, 2314 KiB  
Article
High Accuracy of Epileptic Seizure Detection Using Tiny Machine Learning Technology for Implantable Closed-Loop Neurostimulation Systems
by Evangelia Tsakanika, Vasileios Tsoukas, Athanasios Kakarountas and Vasileios Kokkinos
BioMedInformatics 2025, 5(1), 14; https://doi.org/10.3390/biomedinformatics5010014 - 10 Mar 2025
Viewed by 1212
Abstract
Background: Epilepsy is one of the most common and devastating neurological disorders, manifesting with seizures and affecting approximately 1–2% of the world’s population. The criticality of seizure occurrence and associated risks, combined with the overwhelming need for more precise and innovative treatment methods, [...] Read more.
Background: Epilepsy is one of the most common and devastating neurological disorders, manifesting with seizures and affecting approximately 1–2% of the world’s population. The criticality of seizure occurrence and associated risks, combined with the overwhelming need for more precise and innovative treatment methods, has led to the development of invasive neurostimulation devices programmed to detect and apply electrical stimulation therapy to suppress seizures and reduce the seizure burden. Tiny Machine Learning (TinyML) is a rapidly growing branch of machine learning. One of its key characteristics is the ability to run machine learning algorithms without the need for high computational complexity and powerful hardware resources. The featured work utilizes TinyML technology to implement an algorithm that can be integrated into the microprocessor of an implantable closed-loop brain neurostimulation system to accurately detect seizures in real-time by analyzing intracranial EEG (iEEG) signals. Methods: A dataset containing iEEG signal values from both non-epileptic and epileptic individuals was utilized for the implementation of the proposed algorithm. Appropriate data preprocessing was performed, and two training datasets with 1000 records of non-epileptic and epileptic iEEG signals were created. A test dataset with an independent dataset of 500 records was also created. The web-based platform Edge Impulse was used for model generation and visualization, and different model architectures were explored and tested. Finally, metrics of accuracy, confusion matrices, and ROC curves were used to evaluate the performance of the model. Results: Our model demonstrated high performance, achieving 98% and 99% accuracy on the validation and test EEG datasets, respectively. Our results support the use of TinyML technology in closed-loop neurostimulation devices for epilepsy, as it contributes significantly to the speed and accuracy of seizure detection. Conclusions: The proposed TinyML model demonstrated reliable seizure detection in real-time by analyzing EEG signals and distinguishing epileptic activity from normal brain electrical activity. These findings highlight the potential of TinyML in closed-loop neurostimulation systems for epilepsy, enhancing both speed and accuracy in seizure detection. Full article
(This article belongs to the Special Issue Editor's Choices Series for Methods in Biomedical Informatics Section)
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13 pages, 2163 KiB  
Article
ViBEx: A Visualization Tool for Gene Expression Analysis
by Michael H. Terrefortes-Rosado, Andrea V. Nieves-Rivera, Humberto Ortiz-Zuazaga and Marie Lluberes-Contreras
BioMedInformatics 2025, 5(1), 13; https://doi.org/10.3390/biomedinformatics5010013 - 7 Mar 2025
Viewed by 556
Abstract
Background: Variations in the states of Gene Regulatory Networks significantly influence disease outcomes and drug development. Boolean Networks serve as a tool to conceptualize and understand the complex relationships between genes. Threshold computation methods are used for the binarization of gene expression and [...] Read more.
Background: Variations in the states of Gene Regulatory Networks significantly influence disease outcomes and drug development. Boolean Networks serve as a tool to conceptualize and understand the complex relationships between genes. Threshold computation methods are used for the binarization of gene expression and the Boolean representation of its Gene Regulatory Network. This study aims to provide a platform that facilitates the exploration of the impact of different threshold computation methods on the binarization of gene expression and the subsequent Boolean representation of Gene Regulatory Networks. Methods: Threshold computation methods are implemented for binarizing gene expression, enabling the Boolean representation of the Gene Regulatory Networks. Variations in gene expression discretization and threshold computation methods often lead to differing Boolean representations, which may affect the subsequent analysis. Lluberes proposed a framework for analyzing gene expression when binarization varies based on these factors. This theoretical framework was implemented using the Python Dash framework. Results: A visualization tool has been developed to implement this framework. The tool allows users to upload gene expression datasets and interact with a dashboard to explore gene expression binarization and the inferred Boolean Networks. Conclusions: The developed visualization tool provides a platform that facilitates the exploration of how different binarization methods impact the interpretation of Gene Regulatory Networks, offering insights for disease research and drug development. Full article
(This article belongs to the Special Issue Editor's Choices Series for Methods in Biomedical Informatics Section)
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16 pages, 525 KiB  
Article
Evaluating COVID-19 Vaccine Efficacy Using Kaplan–Meier Survival Analysis
by Waleed Hilal, Michael G. Chislett, Yuandi Wu, Brett Snider, Edward A. McBean, John Yawney and Stephen Andrew Gadsden
BioMedInformatics 2024, 4(4), 2117-2132; https://doi.org/10.3390/biomedinformatics4040113 - 12 Oct 2024
Viewed by 1958
Abstract
Analyses of COVID-19 vaccines have become a forefront of pandemic-related research, as jurisdictions around the world encourage vaccinations as the most assured method to curtail the need for stringent public health measures. Kaplan–Meier models, a form of “survival analysis”, provide a statistical approach [...] Read more.
Analyses of COVID-19 vaccines have become a forefront of pandemic-related research, as jurisdictions around the world encourage vaccinations as the most assured method to curtail the need for stringent public health measures. Kaplan–Meier models, a form of “survival analysis”, provide a statistical approach to improve the understanding of time-to-event probabilities of occurrence. In applications of epidemiology and the study of vaccines, survival analyses can be implemented to quantify the probability of testing positive for SARS-CoV-2, given a population’s vaccination status. In this study, a large proportion of Ontario COVID-19 testing data is used to derive Kaplan–Meier probability curves for individuals who received two doses of a vaccine during a period of peak Delta variant cases, and again for those receiving three doses during a peak time of the Omicron variant. Data consisting of 614,470 individuals with two doses of a COVID-19 vaccine, and 49,551 individuals with three-doses of vaccine, show that recipients of the Moderna vaccine are slightly less likely to test positive for the virus in a 38-day period following their last vaccination than recipients of the Pfizer vaccine, although the difference between the two is marginal in most age groups. This result is largely consistent for two doses of the vaccines during a Delta variant period, as well as an Omicron variant period. The evaluated probabilities of testing positive align with the publicly reported vaccine efficacies of the mRNA vaccines, supporting the resolution that Kaplan–Meier methods in determining vaccine benefits are a justifiable and useful approach in addressing vaccine-related concerns in the COVID-19 landscape. Full article
(This article belongs to the Special Issue Editor's Choices Series for Methods in Biomedical Informatics Section)
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34 pages, 3635 KiB  
Article
Machine Learning for Extraction of Image Features Associated with Progression of Geographic Atrophy
by Janan Arslan and Kurt Benke
BioMedInformatics 2024, 4(3), 1638-1671; https://doi.org/10.3390/biomedinformatics4030089 - 2 Jul 2024
Cited by 1 | Viewed by 1316
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 [...] Read more.
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. Full article
(This article belongs to the Special Issue Editor's Choices Series for Methods in Biomedical Informatics Section)
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12 pages, 514 KiB  
Article
Calibrating Glucose Sensors at the Edge: A Stress Generation Model for Tiny ML Drift Compensation
by Anna Sabatini, Costanza Cenerini, Luca Vollero and Danilo Pau
BioMedInformatics 2024, 4(2), 1519-1530; https://doi.org/10.3390/biomedinformatics4020083 - 9 Jun 2024
Cited by 1 | Viewed by 1001
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 [...] Read more.
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. Full article
(This article belongs to the Special Issue Editor's Choices Series for Methods in Biomedical Informatics Section)
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15 pages, 2325 KiB  
Article
Machine Learning in Allergic Contact Dermatitis: Identifying (Dis)similarities between Polysensitized and Monosensitized Patients
by Aikaterini Kyritsi, Anna Tagka, Alexander Stratigos and Vangelis D. Karalis
BioMedInformatics 2024, 4(2), 1348-1362; https://doi.org/10.3390/biomedinformatics4020074 - 17 May 2024
Viewed by 1557
Abstract
Background: Allergic contact dermatitis (ACD) is a delayed hypersensitivity reaction occurring in sensitized individuals due to exposure to allergens. Polysensitization, defined as positive reactions to multiple unrelated haptens, increases the risk of ACD development and affects patients’ quality of life. The aim of [...] Read more.
Background: Allergic contact dermatitis (ACD) is a delayed hypersensitivity reaction occurring in sensitized individuals due to exposure to allergens. Polysensitization, defined as positive reactions to multiple unrelated haptens, increases the risk of ACD development and affects patients’ quality of life. The aim of this study is to apply machine learning in order to analyze the association between ACD, polysensitization, individual susceptibility, and patients’ characteristics. Methods: Patch test results and demographics from 400 ACD patients (Study protocol Nr. 3765/2022), categorized as polysensitized or monosensitized, were analyzed. Classic statistical analysis and multiple correspondence analysis (MCA) were utilized to explore relationships among variables. Results: The findings revealed significant associations between patient characteristics and ACD patterns, with hand dermatitis showing the strongest correlation. MCA provided insights into the complex interplay of demographic and clinical factors influencing ACD prevalence. Conclusion: Overall, this study highlights the potential of machine learning in unveiling hidden patterns within dermatological data, paving the way for future advancements in the field. Full article
(This article belongs to the Special Issue Editor's Choices Series for Methods in Biomedical Informatics Section)
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13 pages, 2093 KiB  
Article
A Smartphone-Based Algorithm for L Test Subtask Segmentation
by Alexis L. McCreath Frangakis, Edward D. Lemaire and Natalie Baddour
BioMedInformatics 2024, 4(2), 1262-1274; https://doi.org/10.3390/biomedinformatics4020069 - 10 May 2024
Cited by 1 | Viewed by 1289
Abstract
Background: Subtask segmentation can provide useful information from clinical tests, allowing clinicians to better assess a patient’s mobility status. A new smartphone-based algorithm was developed to segment the L Test of functional mobility into stand-up, sit-down, and turn subtasks. Methods: Twenty-one able-bodied participants [...] Read more.
Background: Subtask segmentation can provide useful information from clinical tests, allowing clinicians to better assess a patient’s mobility status. A new smartphone-based algorithm was developed to segment the L Test of functional mobility into stand-up, sit-down, and turn subtasks. Methods: Twenty-one able-bodied participants each completed five L Test trials, with a smartphone attached to their posterior pelvis. The smartphone used a custom-designed application that collected linear acceleration, gyroscope, and magnetometer data, which were then put into a threshold-based algorithm for subtask segmentation. Results: The algorithm produced good results (>97% accuracy, >98% specificity, >74% sensitivity) for all subtasks. Conclusions: These results were a substantial improvement compared with previously published results for the L Test, as well as similar functional mobility tests. This smartphone-based approach is an accessible method for providing useful metrics from the L Test that can lead to better clinical decision-making. Full article
(This article belongs to the Special Issue Editor's Choices Series for Methods in Biomedical Informatics Section)
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11 pages, 3190 KiB  
Article
Assaying and Classifying T Cell Function by Cell Morphology
by Xin Wang, Stacey M. Fernandes, Jennifer R. Brown and Lance C. Kam
BioMedInformatics 2024, 4(2), 1144-1154; https://doi.org/10.3390/biomedinformatics4020063 - 26 Apr 2024
Viewed by 2178
Abstract
Immune cell function varies tremendously between individuals, posing a major challenge to emerging cellular immunotherapies. This report pursues the use of cell morphology as an indicator of high-level T cell function. Short-term spreading of T cells on planar, elastic surfaces was quantified by [...] Read more.
Immune cell function varies tremendously between individuals, posing a major challenge to emerging cellular immunotherapies. This report pursues the use of cell morphology as an indicator of high-level T cell function. Short-term spreading of T cells on planar, elastic surfaces was quantified by 11 morphological parameters and analyzed to identify effects of both intrinsic and extrinsic factors. Our findings identified morphological features that varied between T cells isolated from healthy donors and those from patients being treated for Chronic Lymphocytic Leukemia (CLL). This approach also identified differences between cell responses to substrates of different elastic modulus. Combining multiple features through a machine learning approach such as Decision Tree or Random Forest provided an effective means for identifying whether T cells came from healthy or CLL donors. Further development of this approach could lead to a rapid assay of T cell function to guide cellular immunotherapy. Full article
(This article belongs to the Special Issue Editor's Choices Series for Methods in Biomedical Informatics Section)
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