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Using GPT-4 to write a scientific review article: a pilot evaluation study. 使用 GPT-4 撰写科学评论文章:试点评估研究。
IF 4.5 3区 生物学
Biodata Mining Pub Date : 2024-06-18 DOI: 10.1186/s13040-024-00371-3
Zhiping Paul Wang, Priyanka Bhandary, Yizhou Wang, Jason H Moore
{"title":"Using GPT-4 to write a scientific review article: a pilot evaluation study.","authors":"Zhiping Paul Wang, Priyanka Bhandary, Yizhou Wang, Jason H Moore","doi":"10.1186/s13040-024-00371-3","DOIUrl":"10.1186/s13040-024-00371-3","url":null,"abstract":"<p><p>GPT-4, as the most advanced version of OpenAI's large language models, has attracted widespread attention, rapidly becoming an indispensable AI tool across various areas. This includes its exploration by scientists for diverse applications. Our study focused on assessing GPT-4's capabilities in generating text, tables, and diagrams for biomedical review papers. We also assessed the consistency in text generation by GPT-4, along with potential plagiarism issues when employing this model for the composition of scientific review papers. Based on the results, we suggest the development of enhanced functionalities in ChatGPT, aiming to meet the needs of the scientific community more effectively. This includes enhancements in uploaded document processing for reference materials, a deeper grasp of intricate biomedical concepts, more precise and efficient information distillation for table generation, and a further refined model specifically tailored for scientific diagram creation.</p>","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":"17 1","pages":"16"},"PeriodicalIF":4.5,"publicationDate":"2024-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11184879/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141421566","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Unveiling wearables: exploring the global landscape of biometric applications and vital signs and behavioral impact. 揭开可穿戴设备的神秘面纱:探索生物识别应用和生命体征及行为影响的全球格局。
IF 4.5 3区 生物学
Biodata Mining Pub Date : 2024-06-11 DOI: 10.1186/s13040-024-00368-y
Carolina Del-Valle-Soto, Ramon A Briseño, Leonardo J Valdivia, Juan Arturo Nolazco-Flores
{"title":"Unveiling wearables: exploring the global landscape of biometric applications and vital signs and behavioral impact.","authors":"Carolina Del-Valle-Soto, Ramon A Briseño, Leonardo J Valdivia, Juan Arturo Nolazco-Flores","doi":"10.1186/s13040-024-00368-y","DOIUrl":"10.1186/s13040-024-00368-y","url":null,"abstract":"<p><p>The development of neuroscientific techniques enabling the recording of brain and peripheral nervous system activity has fueled research in cognitive science. Recent technological advancements offer new possibilities for inducing behavioral change, particularly through cost-effective Internet-based interventions. However, limitations in laboratory equipment volume have hindered the generalization of results to real-life contexts. The advent of Internet of Things (IoT) devices, such as wearables, equipped with sensors and microchips, has ushered in a new era in behavior change techniques. Wearables, including smartwatches, electronic tattoos, and more, are poised for massive adoption, with an expected annual growth rate of 55% over the next five years. These devices enable personalized instructions, leading to increased productivity and efficiency, particularly in industrial production. Additionally, the healthcare sector has seen a significant demand for wearables, with over 80% of global consumers willing to use them for health monitoring. This research explores the primary biometric applications of wearables and their impact on users' well-being, focusing on the integration of behavior change techniques facilitated by IoT devices. Wearables have revolutionized health monitoring by providing real-time feedback, personalized interventions, and gamification. They encourage positive behavior changes by delivering immediate feedback, tailored recommendations, and gamified experiences, leading to sustained improvements in health. Furthermore, wearables seamlessly integrate with digital platforms, enhancing their impact through social support and connectivity. However, privacy and data security concerns must be addressed to maintain users' trust. As technology continues to advance, the refinement of IoT devices' design and functionality is crucial for promoting behavior change and improving health outcomes. This study aims to investigate the effects of behavior change techniques facilitated by wearables on individuals' health outcomes and the role of wearables in promoting a healthier lifestyle.</p>","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":"17 1","pages":"15"},"PeriodicalIF":4.5,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11165804/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141307145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The biomedical knowledge graph of symptom phenotype in coronary artery plaque: machine learning-based analysis of real-world clinical data. 冠状动脉斑块症状表型的生物医学知识图谱:基于机器学习的真实世界临床数据分析。
IF 4.5 3区 生物学
Biodata Mining Pub Date : 2024-05-21 DOI: 10.1186/s13040-024-00365-1
Jia-Ming Huan, Xiao-Jie Wang, Yuan Li, Shi-Jun Zhang, Yuan-Long Hu, Yun-Lun Li
{"title":"The biomedical knowledge graph of symptom phenotype in coronary artery plaque: machine learning-based analysis of real-world clinical data.","authors":"Jia-Ming Huan, Xiao-Jie Wang, Yuan Li, Shi-Jun Zhang, Yuan-Long Hu, Yun-Lun Li","doi":"10.1186/s13040-024-00365-1","DOIUrl":"10.1186/s13040-024-00365-1","url":null,"abstract":"<p><p>A knowledge graph can effectively showcase the essential characteristics of data and is increasingly emerging as a significant means of integrating information in the field of artificial intelligence. Coronary artery plaque represents a significant etiology of cardiovascular events, posing a diagnostic challenge for clinicians who are confronted with a multitude of nonspecific symptoms. To visualize the hierarchical relationship network graph of the molecular mechanisms underlying plaque properties and symptom phenotypes, patient symptomatology was extracted from electronic health record data from real-world clinical settings. Phenotypic networks were constructed utilizing clinical data and protein‒protein interaction networks. Machine learning techniques, including convolutional neural networks, Dijkstra's algorithm, and gene ontology semantic similarity, were employed to quantify clinical and biological features within the network. The resulting features were then utilized to train a K-nearest neighbor model, yielding 23 symptoms, 41 association rules, and 61 hub genes across the three types of plaques studied, achieving an area under the curve of 92.5%. Weighted correlation network analysis and pathway enrichment were subsequently utilized to identify lipid status-related genes and inflammation-associated pathways that could help explain the differences in plaque properties. To confirm the validity of the network graph model, we conducted coexpression analysis of the hub genes to evaluate their potential diagnostic value. Additionally, we investigated immune cell infiltration, examined the correlations between hub genes and immune cells, and validated the reliability of the identified biological pathways. By integrating clinical data and molecular network information, this biomedical knowledge graph model effectively elucidated the potential molecular mechanisms that collude symptoms, diseases, and molecules.</p>","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":"17 1","pages":"13"},"PeriodicalIF":4.5,"publicationDate":"2024-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11110203/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141077027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Machine-learning-based models to predict cardiovascular risk using oculomics and clinic variables in KNHANES 基于机器学习的模型,利用 KNHANES 中的眼动学和临床变量预测心血管风险
IF 4.5 3区 生物学
Biodata Mining Pub Date : 2024-04-22 DOI: 10.1186/s13040-024-00363-3
Yuqi Zhang, Sijin Li, Weijie Wu, Yanqing Zhao, Jintao Han, Chao Tong, Niansang Luo, Kun Zhang
{"title":"Machine-learning-based models to predict cardiovascular risk using oculomics and clinic variables in KNHANES","authors":"Yuqi Zhang, Sijin Li, Weijie Wu, Yanqing Zhao, Jintao Han, Chao Tong, Niansang Luo, Kun Zhang","doi":"10.1186/s13040-024-00363-3","DOIUrl":"https://doi.org/10.1186/s13040-024-00363-3","url":null,"abstract":"Recent researches have found a strong correlation between the triglyceride-glucose (TyG) index or the atherogenic index of plasma (AIP) and cardiovascular disease (CVD) risk. However, there is a lack of research on non-invasive and rapid prediction of cardiovascular risk. We aimed to develop and validate a machine-learning model for predicting cardiovascular risk based on variables encompassing clinical questionnaires and oculomics. We collected data from the Korean National Health and Nutrition Examination Survey (KNHANES). The training dataset (80% from the year 2008 to 2011 KNHANES) was used for machine learning model development, with internal validation using the remaining 20%. An external validation dataset from the year 2012 assessed the model’s predictive capacity for TyG-index or AIP in new cases. We included 32122 participants in the final dataset. Machine learning models used 25 algorithms were trained on oculomics measurements and clinical questionnaires to predict the range of TyG-index and AIP. The area under the receiver operating characteristic curve (AUC), accuracy, precision, recall, and F1 score were used to evaluate the performance of our machine learning models. Based on large-scale cohort studies, we determined TyG-index cut-off points at 8.0, 8.75 (upper one-third values), 8.93 (upper one-fourth values), and AIP cut-offs at 0.318, 0.34. Values surpassing these thresholds indicated elevated cardiovascular risk. The best-performing algorithm revealed TyG-index cut-offs at 8.0, 8.75, and 8.93 with internal validation AUCs of 0.812, 0.873, and 0.911, respectively. External validation AUCs were 0.809, 0.863, and 0.901. For AIP at 0.34, internal and external validation achieved similar AUCs of 0.849 and 0.842. Slightly lower performance was seen for the 0.318 cut-off, with AUCs of 0.844 and 0.836. Significant gender-based variations were noted for TyG-index at 8 (male AUC=0.832, female AUC=0.790) and 8.75 (male AUC=0.874, female AUC=0.862) and AIP at 0.318 (male AUC=0.853, female AUC=0.825) and 0.34 (male AUC=0.858, female AUC=0.831). Gender similarity in AUC (male AUC=0.907 versus female AUC=0.906) was observed only when the TyG-index cut-off point equals 8.93. We have established a simple and effective non-invasive machine learning model that has good clinical value for predicting cardiovascular risk in the general population.","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":"114 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2024-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140634495","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Decoding dynamic miRNA:ceRNA interactions unveils therapeutic insights and targets across predominant cancer landscapes 解码动态 miRNA:ceRNA 相互作用,揭示主要癌症景观中的治疗见解和靶点
IF 4.5 3区 生物学
Biodata Mining Pub Date : 2024-04-17 DOI: 10.1186/s13040-024-00362-4
Selcen Ari Yuka, Alper Yilmaz
{"title":"Decoding dynamic miRNA:ceRNA interactions unveils therapeutic insights and targets across predominant cancer landscapes","authors":"Selcen Ari Yuka, Alper Yilmaz","doi":"10.1186/s13040-024-00362-4","DOIUrl":"https://doi.org/10.1186/s13040-024-00362-4","url":null,"abstract":"Competing endogenous RNAs play key roles in cellular molecular mechanisms through cross-talk in post-transcriptional interactions. Studies on ceRNA cross-talk, which is particularly dependent on the abundance of free transcripts, generally involve large- and small-scale studies involving the integration of transcriptomic data from tissues and correlation analyses. This abundance-dependent nature of ceRNA interactions suggests that tissue- and condition-specific ceRNA dynamics may fluctuate. However, there are no comprehensive studies investigating the ceRNA interactions in normal tissue, ceRNAs that are lost and/or appear in cancerous tissues or their interactions. In this study, we comprehensively analyzed the tumor-specific ceRNA fluctuations observed in the three highest-incidence cancers, LUAD, PRAD, and BRCA, compared to healthy lung, prostate, and breast tissues, respectively. Our observations pertaining to tumor-specific competing endogenous RNA (ceRNA) interactions revealed that, in the cases of lung adenocarcinoma (LUAD), prostate adenocarcinoma (PRAD), and breast invasive carcinoma (BRCA), 3,204, 1,233, and 406 ceRNAs, respectively, engage in post-transcriptional intercommunication within tumor tissues, in contrast to their absence in corresponding healthy samples. We also found that 90 ceRNAs are shared by the three cancer types and that these ceRNAs participate in ceRNA interactions in tumor tissues compared to those in normal tissues. Among the 90 ceRNAs that directly interact with miRNAs, we uncovered a core network of 165 miRNAs and 63 ceRNAs that should be considered in RNA-targeted and RNA-mediated approaches in future studies and could be used in these three aggressive cancer types. More specifically, in this core interaction network, ceRNAs such as GALNT7, KLF9, and DAB2 and miRNAs like miR-106a/b-5p, miR-20a-5p, and miR-519d-3p may have potential as common targets in the three critical cancers. In contrast to conventional methods that construct ceRNA networks using differentially expressed genes compared to normal tissues, our proposed approach identifies ceRNA players by considering their context within the ceRNA:miRNA interactions. Our results have the potential to reveal distinct and common ceRNA interactions in cancer types and to pinpoint critical RNAs, thereby paving the way for RNA-based strategies in the battle against cancer.","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":"17 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140614489","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation of network-guided random forest for disease gene discovery 评估用于疾病基因发现的网络引导随机森林
IF 4.5 3区 生物学
Biodata Mining Pub Date : 2024-04-16 DOI: 10.1186/s13040-024-00361-5
Jianchang Hu, Silke Szymczak
{"title":"Evaluation of network-guided random forest for disease gene discovery","authors":"Jianchang Hu, Silke Szymczak","doi":"10.1186/s13040-024-00361-5","DOIUrl":"https://doi.org/10.1186/s13040-024-00361-5","url":null,"abstract":"Gene network information is believed to be beneficial for disease module and pathway identification, but has not been explicitly utilized in the standard random forest (RF) algorithm for gene expression data analysis. We investigate the performance of a network-guided RF where the network information is summarized into a sampling probability of predictor variables which is further used in the construction of the RF. Our simulation results suggest that network-guided RF does not provide better disease prediction than the standard RF. In terms of disease gene discovery, if disease genes form module(s), network-guided RF identifies them more accurately. In addition, when disease status is independent from genes in the given network, spurious gene selection results can occur when using network information, especially on hub genes. Our empirical analysis on two balanced microarray and RNA-Seq breast cancer datasets from The Cancer Genome Atlas (TCGA) for classification of progesterone receptor (PR) status also demonstrates that network-guided RF can identify genes from PGR-related pathways, which leads to a better connected module of identified genes. Gene networks can provide additional information to aid the gene expression analysis for disease module and pathway identification. But they need to be used with caution and validation on the results need to be carried out to guard against spurious gene selection. More robust approaches to incorporate such information into RF construction also warrant further study.","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":"55 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2024-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140582884","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
MOCAT: multi-omics integration with auxiliary classifiers enhanced autoencoder MOCAT:带辅助分类器的多组学集成增强型自动编码器
IF 4.5 3区 生物学
Biodata Mining Pub Date : 2024-03-05 DOI: 10.1186/s13040-024-00360-6
Xiaohui Yao, Xiaohan Jiang, Haoran Luo, Hong Liang, Xiufen Ye, Yanhui Wei, Shan Cong
{"title":"MOCAT: multi-omics integration with auxiliary classifiers enhanced autoencoder","authors":"Xiaohui Yao, Xiaohan Jiang, Haoran Luo, Hong Liang, Xiufen Ye, Yanhui Wei, Shan Cong","doi":"10.1186/s13040-024-00360-6","DOIUrl":"https://doi.org/10.1186/s13040-024-00360-6","url":null,"abstract":"Integrating multi-omics data is emerging as a critical approach in enhancing our understanding of complex diseases. Innovative computational methods capable of managing high-dimensional and heterogeneous datasets are required to unlock the full potential of such rich and diverse data. We propose a Multi-Omics integration framework with auxiliary Classifiers-enhanced AuToencoders (MOCAT) to utilize intra- and inter-omics information comprehensively. Additionally, attention mechanisms with confidence learning are incorporated for enhanced feature representation and trustworthy prediction. Extensive experiments were conducted on four benchmark datasets to evaluate the effectiveness of our proposed model, including BRCA, ROSMAP, LGG, and KIPAN. Our model significantly improved most evaluation measurements and consistently surpassed the state-of-the-art methods. Ablation studies showed that the auxiliary classifiers significantly boosted classification accuracy in the ROSMAP and LGG datasets. Moreover, the attention mechanisms and confidence evaluation block contributed to improvements in the predictive accuracy and generalizability of our model. The proposed framework exhibits superior performance in disease classification and biomarker discovery, establishing itself as a robust and versatile tool for analyzing multi-layer biological data. This study highlights the significance of elaborated designed deep learning methodologies in dissecting complex disease phenotypes and improving the accuracy of disease predictions.","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":"42 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2024-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140037570","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Interpreting drug synergy in breast cancer with deep learning using target-protein inhibition profiles. 利用靶蛋白抑制图谱,通过深度学习解读乳腺癌的药物协同作用。
IF 4.5 3区 生物学
Biodata Mining Pub Date : 2024-02-29 DOI: 10.1186/s13040-024-00359-z
Thanyawee Srithanyarat, Kittisak Taoma, Thana Sutthibutpong, Marasri Ruengjitchatchawalya, Monrudee Liangruksa, Teeraphan Laomettachit
{"title":"Interpreting drug synergy in breast cancer with deep learning using target-protein inhibition profiles.","authors":"Thanyawee Srithanyarat, Kittisak Taoma, Thana Sutthibutpong, Marasri Ruengjitchatchawalya, Monrudee Liangruksa, Teeraphan Laomettachit","doi":"10.1186/s13040-024-00359-z","DOIUrl":"10.1186/s13040-024-00359-z","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer is the most common malignancy among women worldwide. Despite advances in treating breast cancer over the past decades, drug resistance and adverse effects remain challenging. Recent therapeutic progress has shifted toward using drug combinations for better treatment efficiency. However, with a growing number of potential small-molecule cancer inhibitors, in silico strategies to predict pharmacological synergy before experimental trials are required to compensate for time and cost restrictions. Many deep learning models have been previously proposed to predict the synergistic effects of drug combinations with high performance. However, these models heavily relied on a large number of drug chemical structural fingerprints as their main features, which made model interpretation a challenge.</p><p><strong>Results: </strong>This study developed a deep neural network model that predicts synergy between small-molecule pairs based on their inhibitory activities against 13 selected key proteins. The synergy prediction model achieved a Pearson correlation coefficient between model predictions and experimental data of 0.63 across five breast cancer cell lines. BT-549 and MCF-7 achieved the highest correlation of 0.67 when considering individual cell lines. Despite achieving a moderate correlation compared to previous deep learning models, our model offers a distinctive advantage in terms of interpretability. Using the inhibitory activities against key protein targets as the main features allowed a straightforward interpretation of the model since the individual features had direct biological meaning. By tracing the synergistic interactions of compounds through their target proteins, we gained insights into the patterns our model recognized as indicative of synergistic effects.</p><p><strong>Conclusions: </strong>The framework employed in the present study lays the groundwork for future advancements, especially in model interpretation. By combining deep learning techniques and target-specific models, this study shed light on potential patterns of target-protein inhibition profiles that could be exploited in breast cancer treatment.</p>","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":"17 1","pages":"8"},"PeriodicalIF":4.5,"publicationDate":"2024-02-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10905801/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139997938","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Interaction models matter: an efficient, flexible computational framework for model-specific investigation of epistasis. 交互模型很重要:一种高效、灵活的计算框架,用于特定模型的表观性研究。
IF 4 3区 生物学
Biodata Mining Pub Date : 2024-02-28 DOI: 10.1186/s13040-024-00358-0
Sandra Batista, Vered Senderovich Madar, Philip J Freda, Priyanka Bhandary, Attri Ghosh, Nicholas Matsumoto, Apurva S Chitre, Abraham A Palmer, Jason H Moore
{"title":"Interaction models matter: an efficient, flexible computational framework for model-specific investigation of epistasis.","authors":"Sandra Batista, Vered Senderovich Madar, Philip J Freda, Priyanka Bhandary, Attri Ghosh, Nicholas Matsumoto, Apurva S Chitre, Abraham A Palmer, Jason H Moore","doi":"10.1186/s13040-024-00358-0","DOIUrl":"10.1186/s13040-024-00358-0","url":null,"abstract":"<p><strong>Purpose: </strong>Epistasis, the interaction between two or more genes, is integral to the study of genetics and is present throughout nature. Yet, it is seldom fully explored as most approaches primarily focus on single-locus effects, partly because analyzing all pairwise and higher-order interactions requires significant computational resources. Furthermore, existing methods for epistasis detection only consider a Cartesian (multiplicative) model for interaction terms. This is likely limiting as epistatic interactions can evolve to produce varied relationships between genetic loci, some complex and not linearly separable.</p><p><strong>Methods: </strong>We present new algorithms for the interaction coefficients for standard regression models for epistasis that permit many varied models for the interaction terms for loci and efficient memory usage. The algorithms are given for two-way and three-way epistasis and may be generalized to higher order epistasis. Statistical tests for the interaction coefficients are also provided. We also present an efficient matrix based algorithm for permutation testing for two-way epistasis. We offer a proof and experimental evidence that methods that look for epistasis only at loci that have main effects may not be justified. Given the computational efficiency of the algorithm, we applied the method to a rat data set and mouse data set, with at least 10,000 loci and 1,000 samples each, using the standard Cartesian model and the XOR model to explore body mass index.</p><p><strong>Results: </strong>This study reveals that although many of the loci found to exhibit significant statistical epistasis overlap between models in rats, the pairs are mostly distinct. Further, the XOR model found greater evidence for statistical epistasis in many more pairs of loci in both data sets with almost all significant epistasis in mice identified using XOR. In the rat data set, loci involved in epistasis under the XOR model are enriched for biologically relevant pathways.</p><p><strong>Conclusion: </strong>Our results in both species show that many biologically relevant epistatic relationships would have been undetected if only one interaction model was applied, providing evidence that varied interaction models should be implemented to explore epistatic interactions that occur in living systems.</p>","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":"17 1","pages":"7"},"PeriodicalIF":4.0,"publicationDate":"2024-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10900690/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139991555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Assessment of the causal relationship between gut microbiota and cardiovascular diseases: a bidirectional Mendelian randomization analysis. 肠道微生物群与心血管疾病因果关系的评估:双向孟德尔随机分析。
IF 4.5 3区 生物学
Biodata Mining Pub Date : 2024-02-26 DOI: 10.1186/s13040-024-00356-2
Xiao-Ce Dai, Yi Yu, Si-Yu Zhou, Shuo Yu, Mei-Xiang Xiang, Hong Ma
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