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MiCML: a causal machine learning cloud platform for the analysis of treatment effects using microbiome profiles. MiCML:一个因果机器学习云平台,用于使用微生物组概况分析治疗效果。
IF 4 3区 生物学
Biodata Mining Pub Date : 2025-01-30 DOI: 10.1186/s13040-025-00422-3
Hyunwook Koh, Jihun Kim, Hyojung Jang
{"title":"MiCML: a causal machine learning cloud platform for the analysis of treatment effects using microbiome profiles.","authors":"Hyunwook Koh, Jihun Kim, Hyojung Jang","doi":"10.1186/s13040-025-00422-3","DOIUrl":"10.1186/s13040-025-00422-3","url":null,"abstract":"<p><strong>Background: </strong>The treatment effects are heterogenous across patients due to the differences in their microbiomes, which in turn implies that we can enhance the treatment effect by manipulating the patient's microbiome profile. Then, the coadministration of microbiome-based dietary supplements/therapeutics along with the primary treatment has been the subject of intensive investigation. However, for this, we first need to comprehend which microbes help (or prevent) the treatment to cure the patient's disease.</p><p><strong>Results: </strong>In this paper, we introduce a cloud platform, named microbiome causal machine learning (MiCML), for the analysis of treatment effects using microbiome profiles on user-friendly web environments. MiCML is in particular unique with the up-to-date features of (i) batch effect correction to mitigate systematic variation in collective large-scale microbiome data due to the differences in their underlying batches, and (ii) causal machine learning to estimate treatment effects with consistency and then discern microbial taxa that enhance (or lower) the efficacy of the primary treatment. We also stress that MiCML can handle the data from either randomized controlled trials or observational studies.</p><p><strong>Conclusion: </strong>We describe MiCML as a useful analytic tool for microbiome-based personalized medicine. MiCML is freely available on our web server ( http://micml.micloud.kr ). MiCML can also be implemented locally on the user's computer through our GitHub repository ( https://github.com/hk1785/micml ).</p>","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":"18 1","pages":"10"},"PeriodicalIF":4.0,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11783787/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143068960","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
A deep learning approach for classifying and predicting children's nutritional status in Ethiopia using LSTM-FC neural networks. 使用LSTM-FC神经网络分类和预测埃塞俄比亚儿童营养状况的深度学习方法。
IF 4 3区 生物学
Biodata Mining Pub Date : 2025-01-30 DOI: 10.1186/s13040-025-00425-0
Getnet Bogale Begashaw, Temesgen Zewotir, Haile Mekonnen Fenta
{"title":"A deep learning approach for classifying and predicting children's nutritional status in Ethiopia using LSTM-FC neural networks.","authors":"Getnet Bogale Begashaw, Temesgen Zewotir, Haile Mekonnen Fenta","doi":"10.1186/s13040-025-00425-0","DOIUrl":"10.1186/s13040-025-00425-0","url":null,"abstract":"<p><strong>Background: </strong>This study employs a LSTM-FC neural networks to address the critical public health issue of child undernutrition in Ethiopia. By employing this method, the study aims classify children's nutritional status and predict transitions between different undernutrition states over time. This analysis is based on longitudinal data extracted from the Young Lives cohort study, which tracked 1,997 Ethiopian children across five survey rounds conducted from 2002 to 2016. This paper applies rigorous data preprocessing, including handling missing values, normalization, and balancing, to ensure optimal model performance. Feature selection was performed using SHapley Additive exPlanations to identify key factors influencing nutritional status predictions. Hyperparameter tuning was thoroughly applied during model training to optimize performance. Furthermore, this paper compares the performance of LSTM-FC with existing baseline models to demonstrate its superiority. We used Python's TensorFlow and Keras libraries on a GPU-equipped system for model training.</p><p><strong>Results: </strong>LSTM-FC demonstrated superior predictive accuracy and long-term forecasting compared to baseline models for assessing child nutritional status. The classification and prediction performance of the model showed high accuracy rates above 93%, with perfect predictions for Normal (N) and Stunted & Wasted (SW) categories, minimal errors in most other nutritional statuses, and slight over- or underestimations in a few instances. The LSTM-FC model demonstrates strong generalization performance across multiple folds, with high recall and consistent F1-scores, indicating its robustness in predicting nutritional status. We analyzed the prevalence of children's nutritional status during their transition from late adolescence to early adulthood. The results show a notable decline in normal nutritional status among males, decreasing from 58.3% at age 5 to 33.5% by age 25. At the same time, the risk of severe undernutrition, including conditions of being underweight, stunted, and wasted (USW), increased from 1.3% to 9.4%.</p><p><strong>Conclusions: </strong>The LSTM-FC model outperforms baseline methods in classifying and predicting Ethiopian children's nutritional statuses. The findings reveal a critical rise in undernutrition, emphasizing the need for urgent public health interventions.</p>","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":"18 1","pages":"11"},"PeriodicalIF":4.0,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11783927/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143068942","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
A generative deep neural network for pan-digestive tract cancer survival analysis. 泛消化道肿瘤生存分析的生成式深度神经网络。
IF 4 3区 生物学
Biodata Mining Pub Date : 2025-01-27 DOI: 10.1186/s13040-025-00426-z
Lekai Xu, Tianjun Lan, Yiqian Huang, Liansheng Wang, Junqi Lin, Xinpeng Song, Hui Tang, Haotian Cao, Hua Chai
{"title":"A generative deep neural network for pan-digestive tract cancer survival analysis.","authors":"Lekai Xu, Tianjun Lan, Yiqian Huang, Liansheng Wang, Junqi Lin, Xinpeng Song, Hui Tang, Haotian Cao, Hua Chai","doi":"10.1186/s13040-025-00426-z","DOIUrl":"10.1186/s13040-025-00426-z","url":null,"abstract":"<p><strong>Background: </strong>The accurate identification of molecular subtypes in digestive tract cancer (DTC) is crucial for making informed treatment decisions and selecting potential biomarkers. With the rapid advancement of artificial intelligence, various machine learning algorithms have been successfully applied in this field. However, the complexity and high dimensionality of the data features may lead to overlapping and ambiguous subtypes during clustering.</p><p><strong>Results: </strong>In this study, we propose GDEC, a multi-task generative deep neural network designed for precise digestive tract cancer subtyping. The network optimization process involves employing an integrated loss function consisting of two modules: the generative-adversarial module facilitates spatial data distribution understanding for extracting high-quality information, while the clustering module aids in identifying disease subtypes. The experiments conducted on digestive tract cancer datasets demonstrate that GDEC exhibits exceptional performance compared to other advanced methodologies and can separate different cancer molecular subtypes that possess both statistical and biological significance. Subsequently, 21 hub genes related to pan-DTC heterogeneity and prognosis were identified based on the subtypes clustered by GDEC. The following drug analysis suggested Dasatinib and YM155 as potential therapeutic agents for improving the prognosis of patients in pan-DTC immunotherapy, thereby contributing to the enhancement of cancer patient survival.</p><p><strong>Conclusions: </strong>The experiment indicate that GDEC outperforms better than other deep-learning-based methods, and the interpretable algorithm can select biologically significant genes and potential drugs for DTC treatment.</p>","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":"18 1","pages":"9"},"PeriodicalIF":4.0,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11771125/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143054000","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
Motif clustering and digital biomarker extraction for free-living physical activity analysis. 基序聚类和数字生物标记提取用于自由生活的身体活动分析。
IF 4 3区 生物学
Biodata Mining Pub Date : 2025-01-22 DOI: 10.1186/s13040-025-00424-1
Ya-Ting Liang, Charlotte Wang
{"title":"Motif clustering and digital biomarker extraction for free-living physical activity analysis.","authors":"Ya-Ting Liang, Charlotte Wang","doi":"10.1186/s13040-025-00424-1","DOIUrl":"10.1186/s13040-025-00424-1","url":null,"abstract":"<p><strong>Background: </strong>Analyzing free-living physical activity (PA) data presents challenges due to variability in daily routines and the lack of activity labels. Traditional approaches often rely on summary statistics, which may not capture the nuances of individual activity patterns. To address these limitations and advance our understanding of the relationship between PA patterns and health outcomes, we propose a novel motif clustering algorithm that identifies and characterizes specific PA patterns.</p><p><strong>Methods: </strong>This paper proposes an elastic distance-based motif clustering algorithm for identifying specific PA patterns (motifs) in free-living PA data. The algorithm segments long-term PA curves into short-term segments and utilizes elastic shape analysis to measure the similarity between activity segments. This enables the discovery of recurring motifs through pattern clustering. Then, functional principal component analysis (FPCA) is then used to extract digital biomarkers from each motif. These digital biomarkers can subsequently be used to explore the relationship between PA and health outcomes of interest.</p><p><strong>Results: </strong>We demonstrate the efficacy of our method through three real-world applications. Results show that digital biomarkers derived from these motifs effectively capture the association between PA patterns and disease outcomes, improving the accuracy of patient classification.</p><p><strong>Conclusions: </strong>This study introduced a novel approach to analyzing free-living PA data by identifying and characterizing specific activity patterns (motifs). The derived digital biomarkers provide a more nuanced understanding of PA and its impact on health, with potential applications in personalized health assessment and disease detection, offering a promising future for healthcare.</p>","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":"18 1","pages":"8"},"PeriodicalIF":4.0,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11753168/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025254","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
An ensemble machine learning-based performance evaluation identifies top In-Silico pathogenicity prediction methods that best classify driver mutations in cancer. 基于集成机器学习的性能评估确定了对癌症驱动突变进行最佳分类的顶级计算机致病性预测方法。
IF 4 3区 生物学
Biodata Mining Pub Date : 2025-01-20 DOI: 10.1186/s13040-024-00420-x
Subrata Das, Vatsal Patel, Shouvik Chakravarty, Arnab Ghosh, Anirban Mukhopadhyay, Nidhan K Biswas
{"title":"An ensemble machine learning-based performance evaluation identifies top In-Silico pathogenicity prediction methods that best classify driver mutations in cancer.","authors":"Subrata Das, Vatsal Patel, Shouvik Chakravarty, Arnab Ghosh, Anirban Mukhopadhyay, Nidhan K Biswas","doi":"10.1186/s13040-024-00420-x","DOIUrl":"10.1186/s13040-024-00420-x","url":null,"abstract":"<p><strong>Background and objective: </strong>Accurate identification and prioritization of driver-mutations in cancer is critical for effective patient management. Despite the presence of numerous bioinformatic algorithms for estimating mutation pathogenicity, there is significant variation in their assessments. This inconsistency is evident even for well-established cancer driver mutations. This study aims to develop an ensemble machine learning approach to evaluate the performance (rank) of pathogenic and conservation scoring algorithms (PCSAs) based on their ability to distinguish pathogenic driver mutations from benign passenger (non-driver) mutations in head and neck squamous cell carcinoma (HNSC).</p><p><strong>Methods: </strong>The study used a dataset from 502 HNSC patients, classifying mutations based on 299 known high-confidence cancer driver genes. Missense somatic mutations in driver genes were treated as driver mutations, while non-driver mutations were randomly selected from other genes. Each mutation was annotated with 41 PCSAs. Three machine learning algorithms-logistic regression, random forest, and support vector machine-along with recursive feature elimination, were used to rank these PCSAs. The final ranking of the PCSAs was determined using rank-average-sort and rank-sum-sort methods.</p><p><strong>Results: </strong>The random forest algorithm emerged as the top performer among the three tested ML algorithms, with an AUC-ROC of 0.89, compared to 0.83 for the other two, in distinguishing pathogenic driver mutations from benign passenger mutations using all 41 PCSAs. The top 11 PCSAs were selected based on the first quintile cut-off from the final rank-sum distribution. Classifiers built using these top 11 PCSAs (DEOGEN2, Integrated_fitCons, MVP, etc.) demonstrated significantly higher performance (p-value < 2.22e-16) compared to those using the remaining 30 PCSAs across all three ML algorithms, in separating pathogenic driver from benign passenger mutations. The top PCSAs demonstrated strong performance on a validation cohort including independent HNSC and other cancer types: breast, lung, and colorectal - reflecting its consistency, robustness and generalizability.</p><p><strong>Conclusions: </strong>The ensemble machine learning approach effectively evaluates the performance of PCSAs based on their ability to differentiate pathogenic drivers from benign passenger mutations in HNSC and other cancer types. Notably, some well-known PCSAs performed poorly, underscoring the importance of data-driven selection over relying solely on popularity.</p>","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":"18 1","pages":"7"},"PeriodicalIF":4.0,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11744934/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143014566","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
Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients. 罕见变异携带者的丰富表型提示罕见病患者的致病机制。
IF 6.1 3区 生物学
Biodata Mining Pub Date : 2025-01-17 DOI: 10.1186/s13040-024-00418-5
Lane Fitzsimmons, Brett Beaulieu-Jones, Shilpa Nadimpalli Kobren
{"title":"Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients.","authors":"Lane Fitzsimmons, Brett Beaulieu-Jones, Shilpa Nadimpalli Kobren","doi":"10.1186/s13040-024-00418-5","DOIUrl":"10.1186/s13040-024-00418-5","url":null,"abstract":"<p><strong>Background: </strong>The mechanistic pathways that give rise to the extreme symptoms exhibited by rare disease patients are complex, heterogeneous, and difficult to discern. Understanding these mechanisms is critical for developing treatments that address the underlying causes of diseases rather than merely the presenting symptoms. Moreover, the same dysfunctional series of interrelated symptoms implicated in rare recessive diseases may also lead to milder and potentially preventable symptoms in carriers in the general population. Seizures are a common and extreme phenotype that can result from diverse and often elusive pathways in patients with ultrarare or undiagnosed disorders.</p><p><strong>Methods: </strong>In this pilot study, we present an approach to understand the underlying pathways leading to seizures in patients from the Undiagnosed Diseases Network (UDN) by analyzing aggregated genotype and phenotype data from the UK Biobank (UKB). Specifically, we look for enriched phenotypes across UKB participants who harbor rare variants in the same gene known or suspected to be causally implicated in a UDN patient's recessively manifesting disorder. Analyzing these milder but related associated phenotypes in UKB participants can provide insight into the disease-causing mechanisms at play in rare disease UDN patients.</p><p><strong>Results: </strong>We present six vignettes of undiagnosed patients experiencing seizures as part of their recessive genetic condition. For each patient, we analyze a gene of interest: MPO, P2RX7, SQSTM1, COL27A1, PIGQ, or CACNA2D2, and find relevant symptoms associated with UKB participants. We discuss the potential mechanisms by which the digestive, skeletal, circulatory, and immune system abnormalities found in the UKB patients may contribute to the severe presentations exhibited by UDN patients. We find that in our set of rare disease patients, seizures may result from diverse, multi-step pathways that involve multiple body systems.</p><p><strong>Conclusions: </strong>Analyses of large-scale population cohorts such as the UKB can be a critical tool to further our understanding of rare diseases in general. Continued research in this area could lead to more precise diagnostics and personalized treatment strategies for patients with rare and undiagnosed conditions.</p>","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":"18 1","pages":"6"},"PeriodicalIF":6.1,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11740427/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143014569","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
Correction: Predictive modeling of ALS progression: an XGBoost approach using clinical features. 纠正:ALS进展的预测建模:使用临床特征的XGBoost方法。
IF 4 3区 生物学
Biodata Mining Pub Date : 2025-01-17 DOI: 10.1186/s13040-025-00423-2
Richa Gupta, Mansi Bhandari, Anhad Grover, Taher Al-Shehari, Mohammed Kadrie, Taha Alfakih, Hussain Alsalman
{"title":"Correction: Predictive modeling of ALS progression: an XGBoost approach using clinical features.","authors":"Richa Gupta, Mansi Bhandari, Anhad Grover, Taher Al-Shehari, Mohammed Kadrie, Taha Alfakih, Hussain Alsalman","doi":"10.1186/s13040-025-00423-2","DOIUrl":"https://doi.org/10.1186/s13040-025-00423-2","url":null,"abstract":"","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":"18 1","pages":"5"},"PeriodicalIF":4.0,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11740421/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143014567","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
MultiChem: predicting chemical properties using multi-view graph attention network. MultiChem:使用多视图图注意网络预测化学性质。
IF 4 3区 生物学
Biodata Mining Pub Date : 2025-01-16 DOI: 10.1186/s13040-024-00419-4
Heesang Moon, Mina Rho
{"title":"MultiChem: predicting chemical properties using multi-view graph attention network.","authors":"Heesang Moon, Mina Rho","doi":"10.1186/s13040-024-00419-4","DOIUrl":"10.1186/s13040-024-00419-4","url":null,"abstract":"<p><strong>Background: </strong>Understanding the molecular properties of chemical compounds is essential for identifying potential candidates or ensuring safety in drug discovery. However, exploring the vast chemical space is time-consuming and costly, necessitating the development of time-efficient and cost-effective computational methods. Recent advances in deep learning approaches have offered deeper insights into molecular structures. Leveraging this progress, we developed a novel multi-view learning model.</p><p><strong>Results: </strong>We introduce a graph-integrated model that captures both local and global structural features of chemical compounds. In our model, graph attention layers are employed to effectively capture essential local structures by jointly considering atom and bond features, while multi-head attention layers extract important global features. We evaluated our model on nine MoleculeNet datasets, encompassing both classification and regression tasks, and compared its performance with state-of-the-art methods. Our model achieved an average area under the receiver operating characteristic (AUROC) of 0.822 and a root mean squared error (RMSE) of 1.133, representing a 3% improvement in AUROC and a 7% improvement in RMSE over state-of-the-art models in extensive seed testing.</p><p><strong>Conclusion: </strong>MultiChem highlights the importance of integrating both local and global structural information in predicting molecular properties, while also assessing the stability of the models across multiple datasets using various random seed values.</p><p><strong>Implementation: </strong>The codes are available at https://github.com/DMnBI/MultiChem .</p>","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":"18 1","pages":"4"},"PeriodicalIF":4.0,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11737097/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143014571","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
Genome-wide association studies are enriched for interacting genes. 全基因组关联研究丰富了相互作用基因。
IF 4 3区 生物学
Biodata Mining Pub Date : 2025-01-15 DOI: 10.1186/s13040-024-00421-w
Peter T Nguyen, Simon G Coetzee, Irina Silacheva, Dennis J Hazelett
{"title":"Genome-wide association studies are enriched for interacting genes.","authors":"Peter T Nguyen, Simon G Coetzee, Irina Silacheva, Dennis J Hazelett","doi":"10.1186/s13040-024-00421-w","DOIUrl":"10.1186/s13040-024-00421-w","url":null,"abstract":"<p><strong>Background: </strong>With recent advances in single cell technology, high-throughput methods provide unique insight into disease mechanisms and more importantly, cell type origin. Here, we used multi-omics data to understand how genetic variants from genome-wide association studies influence development of disease. We show in principle how to use genetic algorithms with normal, matching pairs of single-nucleus RNA- and ATAC-seq, genome annotations, and protein-protein interaction data to describe the genes and cell types collectively and their contribution to increased risk.</p><p><strong>Results: </strong>We used genetic algorithms to measure fitness of gene-cell set proposals against a series of objective functions that capture data and annotations. The highest information objective function captured protein-protein interactions. We observed significantly greater fitness scores and subgraph sizes in foreground vs. matching sets of control variants. Furthermore, our model reliably identified known targets and ligand-receptor pairs, consistent with prior studies.</p><p><strong>Conclusions: </strong>Our findings suggested that application of genetic algorithms to association studies can generate a coherent cellular model of risk from a set of susceptibility variants. Further, we showed, using breast cancer as an example, that such variants have a greater number of physical interactions than expected due to chance.</p>","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":"18 1","pages":"3"},"PeriodicalIF":4.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11734473/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143014570","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 Venus score for the assessment of the quality and trustworthiness of biomedical datasets. 维纳斯分数用于评估生物医学数据集的质量和可信度。
IF 4 3区 生物学
Biodata Mining Pub Date : 2025-01-09 DOI: 10.1186/s13040-024-00412-x
Davide Chicco, Alessandro Fabris, Giuseppe Jurman
{"title":"The Venus score for the assessment of the quality and trustworthiness of biomedical datasets.","authors":"Davide Chicco, Alessandro Fabris, Giuseppe Jurman","doi":"10.1186/s13040-024-00412-x","DOIUrl":"10.1186/s13040-024-00412-x","url":null,"abstract":"<p><p>Biomedical datasets are the mainstays of computational biology and health informatics projects, and can be found on multiple data platforms online or obtained from wet-lab biologists and physicians. The quality and the trustworthiness of these datasets, however, can sometimes be poor, producing bad results in turn, which can harm patients and data subjects. To address this problem, policy-makers, researchers, and consortia have proposed diverse regulations, guidelines, and scores to assess the quality and increase the reliability of datasets. Although generally useful, however, they are often incomplete and impractical. The guidelines of Datasheets for Datasets, in particular, are too numerous; the requirements of the Kaggle Dataset Usability Score focus on non-scientific requisites (for example, including a cover image); and the European Union Artificial Intelligence Act (EU AI Act) sets forth sparse and general data governance requirements, which we tailored to datasets for biomedical AI. Against this backdrop, we introduce our new Venus score to assess the data quality and trustworthiness of biomedical datasets. Our score ranges from 0 to 10 and consists of ten questions that anyone developing a bioinformatics, medical informatics, or cheminformatics dataset should answer before the release. In this study, we first describe the EU AI Act, Datasheets for Datasets, and the Kaggle Dataset Usability Score, presenting their requirements and their drawbacks. To do so, we reverse-engineer the weights of the influential Kaggle Score for the first time and report them in this study. We distill the most important data governance requirements into ten questions tailored to the biomedical domain, comprising the Venus score. We apply the Venus score to twelve datasets from multiple subdomains, including electronic health records, medical imaging, microarray and bulk RNA-seq gene expression, cheminformatics, physiologic electrogram signals, and medical text. Analyzing the results, we surface fine-grained strengths and weaknesses of popular datasets, as well as aggregate trends. Most notably, we find a widespread tendency to gloss over sources of data inaccuracy and noise, which may hinder the reliable exploitation of data and, consequently, research results. Overall, our results confirm the applicability and utility of the Venus score to assess the trustworthiness of biomedical data.</p>","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":"18 1","pages":"1"},"PeriodicalIF":4.0,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11716409/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142957099","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
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