BioMedInformatics最新文献

{"title":"Evaluating Ovarian Cancer Chemotherapy Response Using Gene Expression Data and Machine Learning","authors":"Soukaina Amniouel, Keertana Yalamanchili, Sreenidhi Sankararaman, M. S. Jafri","doi":"10.3390/biomedinformatics4020077","DOIUrl":"https://doi.org/10.3390/biomedinformatics4020077","url":null,"abstract":"Background: Ovarian cancer (OC) is the most lethal gynecological cancer in the United States. Among the different types of OC, serous ovarian cancer (SOC) stands out as the most prevalent. Transcriptomics techniques generate extensive gene expression data, yet only a few of these genes are relevant to clinical diagnosis. Methods: Methods for feature selection (FS) address the challenges of high dimensionality in extensive datasets. This study proposes a computational framework that applies FS techniques to identify genes highly associated with platinum-based chemotherapy response on SOC patients. Using SOC datasets from the Gene Expression Omnibus (GEO) database, LASSO and varSelRF FS methods were employed. Machine learning classification algorithms such as random forest (RF) and support vector machine (SVM) were also used to evaluate the performance of the models. Results: The proposed framework has identified biomarkers panels with 9 and 10 genes that are highly correlated with platinum–paclitaxel and platinum-only response in SOC patients, respectively. The predictive models have been trained using the identified gene signatures and accuracy of above 90% was achieved. Conclusions: In this study, we propose that applying multiple feature selection methods not only effectively reduces the number of identified biomarkers, enhancing their biological relevance, but also corroborates the efficacy of drug response prediction models in cancer treatment.","PeriodicalId":72394,"journal":{"name":"BioMedInformatics","volume":"41 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141112496","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":"Bioinformatics-Based Identification of Human B-Cell Receptor (BCR) Stimulation-Associated Genes and Putative Promoters","authors":"Ethan Deitcher, Kirk Trisler, B. Moriarity, Caleb J. Bostwick, Fleur A. D. Leenen, Steven R. Deitcher","doi":"10.3390/biomedinformatics4020076","DOIUrl":"https://doi.org/10.3390/biomedinformatics4020076","url":null,"abstract":"Genome engineered B-cells are being developed for chronic, systemic in vivo protein replacement therapies and for localized, tumor cell-actuated anticancer therapeutics. For continuous systemic engineered protein production, expression may be driven by constitutively active promoters. For actuated payload delivery, B-cell conditional expression could be based on transgene alternate splicing or heterologous promotors activated after engineered B-cell receptor (BCR) stimulation. This study used a bioinformatics-based approach to identify putative BCR-stimulated gene promoters. Gene expression data at four timepoints (60, 90, 210, and 390 min) following in vitro BCR stimulation using an anti-IgM antibody in B-cells from six healthy donors were analyzed using R (4.2.2). Differentially upregulated genes were stringently defined as those with adjusted p-value < 0.01 and a log2FoldChange > 1.5. The most upregulated and statistically significant genes were further analyzed to find those with the lowest unstimulated B-cell expression. Of the 46 significantly upregulated genes at 390 min post-BCR stimulation, 6 had average unstimulated expression below the median unstimulated expression at 390 min for all 54,675 gene probes. This bioinformatics-based identification of 6 relatively quiescent genes at baseline that are upregulated by BCR-stimulation (“on-switch”) provides a set of promising promotors for inclusion in future transgene designs and engineered B-cell therapeutics development.","PeriodicalId":72394,"journal":{"name":"BioMedInformatics","volume":"12 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141119931","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":"The Crucial Role of Interdisciplinary Conferences in Advancing Explainable AI in Healthcare","authors":"Ankush U. Patel, Qiangqiang Gu, Ronda N. Esper, Danielle Maeser, Nicole Maeser","doi":"10.3390/biomedinformatics4020075","DOIUrl":"https://doi.org/10.3390/biomedinformatics4020075","url":null,"abstract":"As artificial intelligence (AI) integrates within the intersecting domains of healthcare and computational biology, developing interpretable models tailored to medical contexts is met with significant challenges. Explainable AI (XAI) is vital for fostering trust and enabling effective use of AI in healthcare, particularly in image-based specialties such as pathology and radiology where adjunctive AI solutions for diagnostic image analysis are increasingly utilized. Overcoming these challenges necessitates interdisciplinary collaboration, essential for advancing XAI to enhance patient care. This commentary underscores the critical role of interdisciplinary conferences in promoting the necessary cross-disciplinary exchange for XAI innovation. A literature review was conducted to identify key challenges, best practices, and case studies related to interdisciplinary collaboration for XAI in healthcare. The distinctive contributions of specialized conferences in fostering dialogue, driving innovation, and influencing research directions were scrutinized. Best practices and recommendations for fostering collaboration, organizing conferences, and achieving targeted XAI solutions were adapted from the literature. By enabling crucial collaborative junctures that drive XAI progress, interdisciplinary conferences integrate diverse insights to produce new ideas, identify knowledge gaps, crystallize solutions, and spur long-term partnerships that generate high-impact research. Thoughtful structuring of these events, such as including sessions focused on theoretical foundations, real-world applications, and standardized evaluation, along with ample networking opportunities, is key to directing varied expertise toward overcoming core challenges. Successful collaborations depend on building mutual understanding and respect, clear communication, defined roles, and a shared commitment to the ethical development of robust, interpretable models. Specialized conferences are essential to shape the future of explainable AI and computational biology, contributing to improved patient outcomes and healthcare innovations. Recognizing the catalytic power of this collaborative model is key to accelerating the innovation and implementation of interpretable AI in medicine.","PeriodicalId":72394,"journal":{"name":"BioMedInformatics","volume":"7 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140962793","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 in Allergic Contact Dermatitis: Identifying (Dis)similarities between Polysensitized and Monosensitized Patients","authors":"Aikaterini Kyritsi, Anna Tagka, Alexander Stratigos, Vangelis D. Karalis","doi":"10.3390/biomedinformatics4020074","DOIUrl":"https://doi.org/10.3390/biomedinformatics4020074","url":null,"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 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.","PeriodicalId":72394,"journal":{"name":"BioMedInformatics","volume":"88 21","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140963980","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":"A Comprehensive Review of the Impact of Machine Learning and Omics on Rare Neurological Diseases","authors":"Nofe Alganmi","doi":"10.3390/biomedinformatics4020073","DOIUrl":"https://doi.org/10.3390/biomedinformatics4020073","url":null,"abstract":"Background: Rare diseases, predominantly caused by genetic factors and often presenting neurological manifestations, are significantly underrepresented in research. This review addresses the urgent need for advanced research in rare neurological diseases (RNDs), which suffer from a data scarcity and diagnostic challenges. Bridging the gap in RND research is the integration of machine learning (ML) and omics technologies, offering potential insights into the genetic and molecular complexities of these conditions. Methods: We employed a structured search strategy, using a combination of machine learning and omics-related keywords, alongside the names and synonyms of 1840 RNDs as identified by Orphanet. Our inclusion criteria were limited to English language articles that utilized specific ML algorithms in the analysis of omics data related to RNDs. We excluded reviews and animal studies, focusing solely on studies with the clear application of ML in omics data to ensure the relevance and specificity of our research corpus. Results: The structured search revealed the growing use of machine learning algorithms for the discovery of biomarkers and diagnosis of rare neurological diseases (RNDs), with a primary focus on genomics and radiomics because genetic factors and imaging techniques play a crucial role in determining the severity of these diseases. With AI, we can improve diagnosis and mutation detection and develop personalized treatment plans. There are, however, several challenges, including small sample sizes, data heterogeneity, model interpretability, and the need for external validation studies. Conclusions: The sparse knowledge of valid biomarkers, disease pathogenesis, and treatments for rare diseases presents a significant challenge for RND research. The integration of omics and machine learning technologies, coupled with collaboration among stakeholders, is essential to develop personalized treatment plans and improve patient outcomes in this critical medical domain.","PeriodicalId":72394,"journal":{"name":"BioMedInformatics","volume":"27 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140969911","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":"IMPI: An Interface for Low-Frequency Point Mutation Identification Exemplified on Resistance Mutations in Chronic Myeloid Leukemia","authors":"Julia Vetter, Jonathan Burghofer, Theodora Malli, Anna M. Lin, Gerald Webersinke, Markus Wiederstein, Stephan Winkler, Susanne Schaller","doi":"10.3390/biomedinformatics4020071","DOIUrl":"https://doi.org/10.3390/biomedinformatics4020071","url":null,"abstract":"Background: In genomics, highly sensitive point mutation detection is particularly relevant for cancer diagnosis and early relapse detection. Next-generation sequencing combined with unique molecular identifiers (UMIs) is known to improve the mutation detection sensitivity. Methods: We present an open-source bioinformatics framework named Interface for Point Mutation Identification (IMPI) with a graphical user interface (GUI) for processing especially small-scale NGS data to identify variants. IMPI ensures detailed UMI analysis and clustering, as well as initial raw read processing, and consensus sequence building. Furthermore, the effects of custom algorithm and parameter settings for NGS data pre-processing and UMI collapsing (e.g., UMI clustered versus unclustered (raw) reads) can be investigated. Additionally, IMPI implements optimization and quality control methods; an evolution strategy is used for parameter optimization. Results: IMPI was designed, implemented, and tested using BCR::ABL1 fusion gene kinase domain sequencing data. In summary, IMPI enables a detailed analysis of the impact of UMI clustering and parameter setting changes on the measured allele frequencies. Conclusions: Regarding the BCR::ABL1 data, IMPI’s results underlined the need for caution while designing specialized single amplicon NGS approaches due to methodical limitations (e.g., high PCR-mediated recombination rate). This cannot be corrected using UMIs.","PeriodicalId":72394,"journal":{"name":"BioMedInformatics","volume":"33 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140983940","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":"Perspectives on Resolving Diagnostic Challenges between Myocardial Infarction and Takotsubo Cardiomyopathy Leveraging Artificial Intelligence","authors":"Serin Moideen Sheriff, Aaftab Sethi, Divyanshi Sood, Sourav Bansal, Aastha Goudel, Manish Murlidhar, Devanshi N. Damani, Kanchan Kulkarni, Shivaram P. Arunachalam","doi":"10.3390/biomedinformatics4020072","DOIUrl":"https://doi.org/10.3390/biomedinformatics4020072","url":null,"abstract":"Background: cardiovascular diseases, including acute myocardial infarction (AMI) and takotsubo cardiomyopathy (TTC), are significant causes of morbidity and mortality worldwide. Timely differentiation of these conditions is essential for effective patient management and improved outcomes. Methods: We conducted a review focusing on studies that applied artificial intelligence (AI) techniques to differentiate between acute myocardial infarction (AMI) and takotsubo cardiomyopathy (TTC). Inclusion criteria comprised studies utilizing various AI modalities, such as deep learning, ensemble methods, or other machine learning techniques, for discrimination between AMI and TTC. Additionally, studies employing imaging techniques, including echocardiography, cardiac magnetic resonance imaging, and coronary angiography, for cardiac disease diagnosis were considered. Publications included were limited to those available in peer-reviewed journals. Exclusion criteria were applied to studies not relevant to the discrimination between AMI and TTC, lacking detailed methodology or results pertinent to the AI application in cardiac disease diagnosis, not utilizing AI modalities or relying solely on invasive techniques for differentiation between AMI and TTC, and non-English publications. Results: The strengths and limitations of AI-based approaches are critically evaluated, including factors affecting performance, such as reliability and generalizability. The review delves into challenges associated with model interpretability, ethical implications, patient perspectives, and inconsistent image quality due to manual dependency, highlighting the need for further research. Conclusions: This review article highlights the promising advantages of AI technologies in distinguishing AMI from TTC, enabling early diagnosis and personalized treatments. However, extensive validation and real-world implementation are necessary before integrating AI tools into routine clinical practice. It is vital to emphasize that while AI can efficiently assist, it cannot entirely replace physicians. Collaborative efforts among clinicians, researchers, and AI experts are essential to unlock the potential of these transformative technologies fully.","PeriodicalId":72394,"journal":{"name":"BioMedInformatics","volume":"39 20","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140982642","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":"Cancer Classification from Gene Expression Using Ensemble Learning with an Influential Feature Selection Technique","authors":"Nusrath Tabassum, M.A.S. Kamal, M. A. H. Akhand, Kou Yamada","doi":"10.3390/biomedinformatics4020070","DOIUrl":"https://doi.org/10.3390/biomedinformatics4020070","url":null,"abstract":"Uncontrolled abnormal cell growth, known as cancer, may lead to tumors, immune system deterioration, and other fatal disability. Early cancer identification makes cancer treatment easier and increases the recovery rate, resulting in less mortality. Gene expression data play a crucial role in cancer classification at an early stage. Accurate cancer classification is a complex and challenging task due to the high-dimensional nature of the gene expression data relative to the small sample size. This research proposes using a dimensionality-reduction technique to address this limitation. Specifically, the mutual information (MI) technique is first utilized to select influential biomarker genes. Next, an ensemble learning model is applied to the reduced dataset using only the most influential features (genes) to develop an effective cancer classification model. The bagging method, where the base classifiers are Multilayer Perceptrons (MLPs), is chosen as an ensemble technique. The proposed cancer classification model, the MI-Bagging method, is applied to several benchmark gene expression datasets containing distinctive cancer classes. The cancer classification accuracy of the proposed model is compared with the relevant existing methods. The experimental results indicate that the proposed model outperforms the existing methods, and it is effective and competent for cancer classification despite the limited size of gene expression data with high dimensionality. The highest accuracy achieved by the proposed method demonstrates that the proposed emerging gene-expression-based cancer classifier has the potential to help in cancer treatment and lead to a higher cancer survival rate in the future.","PeriodicalId":72394,"journal":{"name":"BioMedInformatics","volume":"11 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140984129","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":"ConsensusPrime—A Bioinformatic Pipeline for Efficient Consensus Primer Design—Detection of Various Resistance and Virulence Factors in MRSA—A Case Study","authors":"Maximillian Collatz, M. Reinicke, Celia Diezel, S. Braun, S. Monecke, Annett Reissig, R. Ehricht","doi":"10.3390/biomedinformatics4020068","DOIUrl":"https://doi.org/10.3390/biomedinformatics4020068","url":null,"abstract":"Background: The effectiveness and reliability of diagnostic tests that detect DNA sequences largely hinge on the quality of the used primers and probes. This importance is especially evident when considering the specific sample being analyzed, as it affects the molecular background and potential for cross-reactivity, ultimately determining the test’s performance. Methods: Predicting primers based on the consensus sequence of the target has multiple advantages, including high specificity, diagnostic reliability, broad applicability, and long-term validity. Automated curation of the input sequences ensures high-quality primers and probes. Results: Here, we present a use case for developing a set of consensus primers and probes to identify antibiotic resistance and virulence genes in Staphylococcus (S.) aureus using the ConsensusPrime pipeline. Extensive qPCR experiments with several S. aureus strains confirm the exceptional quality of the primers designed using the pipeline. Conclusions: By improving the quality of the input sequences and using the consensus sequence as a basis, the ConsensusPrime pipeline pipeline ensures high-quality primers and probes, which should be the basis of molecular assays.","PeriodicalId":72394,"journal":{"name":"BioMedInformatics","volume":" 75","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140990957","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":"A Smartphone-Based Algorithm for L Test Subtask Segmentation","authors":"Alexis L. McCreath Frangakis, Edward D. Lemaire, Natalie Baddour","doi":"10.3390/biomedinformatics4020069","DOIUrl":"https://doi.org/10.3390/biomedinformatics4020069","url":null,"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 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.","PeriodicalId":72394,"journal":{"name":"BioMedInformatics","volume":" 43","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140991667","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}