Biodata Mining最新文献

Background: Machine learning can be used to predict the different onset of human cancers. Highly dimensional data have enormous, complicated problems. One of these is an excessive number of genes plus over-fitting, fitting time, and classification accuracy. Recursive Feature Elimination (RFE) is a wrapper method for selecting the best subset of features that cause the best accuracy. Despite the high performance of RFE, time computation and over-fitting are two disadvantages of this algorithm. Random forest for selection (RFS) proves its effectiveness in selecting the effective features and improving the over-fitting problem.

Method: This paper proposed a method, namely, positions first bootstrap step (PFBS) random forest selection recursive feature elimination (RFS-RFE) and its abbreviation is PFBS- RFS-RFE to enhance cancer classification performance. It used a bootstrap with many positions included in the outer first bootstrap step (OFBS), inner first bootstrap step (IFBS), and outer/ inner first bootstrap step (O/IFBS). In the first position, OFBS is applied as a resampling method (bootstrap) with replacement before selection step. The RFS is applied with bootstrap = false i.e., the whole datasets are used to build each tree. The importance features are hybrid with RFE to select the most relevant subset of features. In the second position, IFBS is applied as a resampling method (bootstrap) with replacement during applied RFS. The importance features are hybrid with RFE. In the third position, O/IFBS is applied as a hybrid of first and second positions. RFE used logistic regression (LR) as an estimator. The proposed methods are incorporated with four classifiers to solve the feature selection problems and modify the performance of RFE, in which five datasets with different size are used to assess the performance of the PFBS-RFS-RFE.

Results: The results showed that the O/IFBS-RFS-RFE achieved the best performance compared with previous work and enhanced the accuracy, variance and ROC area for RNA gene and dermatology erythemato-squamous diseases datasets to become 99.994%, 0.0000004, 1.000 and 100.000%, 0.0 and 1.000, respectively.

Conclusion: High dimensional datasets and RFE algorithm face many troubles in cancers classification performance. PFBS-RFS-RFE is proposed to fix these troubles with different positions. The importance features which extracted from RFS are used with RFE to obtain the effective features.

Introduction: Bladder cancer assessment with non-invasive gene expression signatures facilitates the detection of patients at risk and surveillance of their status, bypassing the discomforts given by cystoscopy. To achieve accurate cancer estimation, analysis pipelines for gene expression data (GED) may integrate a sequence of several machine learning and bio-statistical techniques to model complex characteristics of pathological patterns.

Methods: Numerical experiments tested the combination of GED preprocessing by discretization with tree ensemble embeddings and nonlinear dimensionality reductions to categorize oncological patients comprehensively. Modeling aimed to identify tumor stage and distinguish survival outcomes in two situations: complete and partial data embedding. This latter experimental condition simulates the addition of new patients to an existing model for rapid monitoring of disease progression. Machine learning procedures were employed to identify the most relevant genes involved in patient prognosis and test the performance of preprocessed GED compared to untransformed data in predicting patient conditions.

Results: Data embedding paired with dimensionality reduction produced prognostic maps with well-defined clusters of patients, suitable for medical decision support. A second experiment simulated the addition of new patients to an existing model (partial data embedding): Uniform Manifold Approximation and Projection (UMAP) methodology with uniform data discretization led to better outcomes than other analyzed pipelines. Further exploration of parameter space for UMAP and t-distributed stochastic neighbor embedding (t-SNE) underlined the importance of tuning a higher number of parameters for UMAP rather than t-SNE. Moreover, two different machine learning experiments identified a group of genes valuable for partitioning patients (gene relevance analysis) and showed the higher precision obtained by preprocessed data in predicting tumor outcomes for cancer stage and survival rate (six classes prediction).

Conclusions: The present investigation proposed new analysis pipelines for disease outcome modeling from bladder cancer-related biomarkers. Complete and partial data embedding experiments suggested that pipelines employing UMAP had a more accurate predictive ability, supporting the recent literature trends on this methodology. However, it was also found that several UMAP parameters influence experimental results, therefore deriving a recommendation for researchers to pay attention to this aspect of the UMAP technique. Machine learning procedures further demonstrated the effectiveness of the proposed preprocessing in predicting patients' conditions and determined a sub-group of biomarkers significant for forecasting bladder cancer prognosis.

Background: Annotating scientific literature with ontology concepts is a critical task in biology and several other domains for knowledge discovery. Ontology based annotations can power large-scale comparative analyses in a wide range of applications ranging from evolutionary phenotypes to rare human diseases to the study of protein functions. Computational methods that can tag scientific text with ontology terms have included lexical/syntactic methods, traditional machine learning, and most recently, deep learning.

Results: Here, we present state of the art deep learning architectures based on Gated Recurrent Units for annotating text with ontology concepts. We use the Colorado Richly Annotated Full Text Corpus (CRAFT) as a gold standard for training and testing. We explore a number of additional information sources including NCBI's BioThesauraus and Unified Medical Language System (UMLS) to augment information from CRAFT for increasing prediction accuracy. Our best model results in a 0.84 F1 and semantic similarity.

Conclusion: The results shown here underscore the impact for using deep learning architectures for automatically recognizing ontology concepts from literature. The augmentation of the models with biological information beyond that present in the gold standard corpus shows a distinct improvement in prediction accuracy.

Background: Clinical decision of extubation is a challenge in the treatment of patient with invasive mechanical ventilation (IMV), since existing extubation protocols are not capable of precisely predicting extubation failure (EF). This study aims to develop and validate interpretable recurrent neural network (RNN) models for dynamically predicting EF risk.

Methods: A retrospective cohort study was conducted on IMV patients from the Medical Information Mart for Intensive Care IV (MIMIC-IV) database. Time series with a 4-h resolution were built for all included patients. Two types of RNN models, the long short-term memory (LSTM) and the gated recurrent unit (GRU), were developed. A stepwise logistic regression model was used to select key features for developing light-version RNN models. The RNN models were compared to other five non-temporal machine learning models. The Shapley additive explanations (SHAP) value was applied to explain the influence of the features on model prediction.

Results: Of 8,599 included patients, 2,609 had EF (30.3%). The area under receiver operating characteristic curve (AUROC) of LSTM and GRU showed no statistical difference on the test set (0.828 vs. 0.829). The light-version RNN models based on the 26 features selected out of a total of 89 features showed comparable performance as their corresponding full-version models. Among the non-temporal models, only the random forest (RF) (AUROC: 0.820) and the extreme gradient boosting (XGB) model (AUROC: 0.823) were comparable to the RNN models, but their calibration was deviated.

Conclusions: The RNN models have excellent predictive performance for predicting EF risk and have potential to become real-time assistant decision-making systems for extubation.

Background: Under-five mortality is a matter of serious concern for child health as well as the social development of any country. The paper aimed to find the accuracy of machine learning models in predicting under-five mortality and identify the most significant factors associated with under-five mortality.

Method: The data was taken from the National Family Health Survey (NFHS-IV) of Uttar Pradesh. First, we used multivariate logistic regression due to its capability for predicting the important factors, then we used machine learning techniques such as decision tree, random forest, Naïve Bayes, K- nearest neighbor (KNN), logistic regression, support vector machine (SVM), neural network, and ridge classifier. Each model's accuracy was checked by a confusion matrix, accuracy, precision, recall, F1 score, Cohen's Kappa, and area under the receiver operating characteristics curve (AUROC). Information gain rank was used to find the important factors for under-five mortality. Data analysis was performed using, STATA-16.0, Python 3.3, and IBM SPSS Statistics for Windows, Version 27.0 software.

Result: By applying the machine learning models, results showed that the neural network model was the best predictive model for under-five mortality when compared with other predictive models, with model accuracy of (95.29% to 95.96%), recall (71.51% to 81.03%), precision (36.64% to 51.83%), F1 score (50.46% to 62.68%), Cohen's Kappa value (0.48 to 0.60), AUROC range (93.51% to 96.22%) and precision-recall curve range (99.52% to 99.73%). The neural network was the most efficient model, but logistic regression also shows well for predicting under-five mortality with accuracy (94% to 95%)., AUROC range (93.4% to 94.8%), and precision-recall curve (99.5% to 99.6%). The number of living children, survival time, wealth index, child size at birth, birth in the last five years, the total number of children ever born, mother's education level, and birth order were identified as important factors influencing under-five mortality.

Conclusion: The neural network model was a better predictive model compared to other machine learning models in predicting under-five mortality, but logistic regression analysis also shows good results. These models may be helpful for the analysis of high-dimensional data for health research.

Background: The three-dimensional (3D) structure of chromatin has a massive effect on its function. Because of this, it is desirable to have an understanding of the 3D structural organization of chromatin. To gain greater insight into the spatial organization of chromosomes and genomes and the functions they perform, chromosome conformation capture (3C) techniques, particularly Hi-C, have been developed. The Hi-C technology is widely used and well-known because of its ability to profile interactions for all read pairs in an entire genome. The advent of Hi-C has greatly expanded our understanding of the 3D genome, genome folding, gene regulation and has enabled the development of many 3D chromosome structure reconstruction methods.

Results: Here, we propose a novel approach for 3D chromosome and genome structure reconstruction from Hi-C data using Particle Swarm Optimization (PSO) approach called ParticleChromo3D. This algorithm begins with a grouping of candidate solution locations for each chromosome bin, according to the particle swarm algorithm, and then iterates its position towards a global best candidate solution. While moving towards the optimal global solution, each candidate solution or particle uses its own local best information and a randomizer to choose its path. Using several metrics to validate our results, we show that ParticleChromo3D produces a robust and rigorous representation of the 3D structure for input Hi-C data. We evaluated our algorithm on simulated and real Hi-C data in this work. Our results show that ParticleChromo3D is more accurate than most of the existing algorithms for 3D structure reconstruction.

Conclusions: Our results also show that constructed ParticleChromo3D structures are very consistent, hence indicating that it will always arrive at the global solution at every iteration. The source code for ParticleChromo3D, the simulated and real Hi-C datasets, and the models generated for these datasets are available here: https://github.com/OluwadareLab/ParticleChromo3D.

Background: Nowadays, patients with chronic diseases such as diabetes and hypertension have reached alarming numbers worldwide. These diseases increase the risk of developing acute complications and involve a substantial economic burden and demand for health resources. The widespread adoption of Electronic Health Records (EHRs) is opening great opportunities for supporting decision-making. Nevertheless, data extracted from EHRs are complex (heterogeneous, high-dimensional and usually noisy), hampering the knowledge extraction with conventional approaches.

Methods: We propose the use of the Denoising Autoencoder (DAE), a Machine Learning (ML) technique allowing to transform high-dimensional data into latent representations (LRs), thus addressing the main challenges with clinical data. We explore in this work how the combination of LRs with a visualization method can be used to map the patient data in a two-dimensional space, gaining knowledge about the distribution of patients with different chronic conditions. Furthermore, this representation can be also used to characterize the patient's health status evolution, which is of paramount importance in the clinical setting.

Results: To obtain clinical LRs, we considered real-world data extracted from EHRs linked to the University Hospital of Fuenlabrada in Spain. Experimental results showed the great potential of DAEs to identify patients with clinical patterns linked to hypertension, diabetes and multimorbidity. The procedure allowed us to find patients with the same main chronic disease but different clinical characteristics. Thus, we identified two kinds of diabetic patients with differences in their drug therapy (insulin and non-insulin dependant), and also a group of women affected by hypertension and gestational diabetes. We also present a proof of concept for mapping the health status evolution of synthetic patients when considering the most significant diagnoses and drugs associated with chronic patients.

Conclusion: Our results highlighted the value of ML techniques to extract clinical knowledge, supporting the identification of patients with certain chronic conditions. Furthermore, the patient's health status progression on the two-dimensional space might be used as a tool for clinicians aiming to characterize health conditions and identify their more relevant clinical codes.

Background: Preterm deliveries have many negative health implications on both mother and child. Identifying the population level factors that increase the risk of preterm deliveries is an important step in the direction of mitigating the impact and reducing the frequency of occurrence of preterm deliveries. The purpose of this work is to identify preterm delivery risk factors and their progression throughout the pregnancy from a large collection of Electronic Health Records (EHR).

Results: The study cohort includes about 60,000 deliveries in the USA with the complete medical history from EHR for diagnoses, medications and procedures. We propose a temporal analysis of risk factors by estimating and comparing risk ratios and variable importance at different time points prior to the delivery event. We selected the following time points before delivery: 0, 12 and 24 week(s) of gestation. We did so by conducting a retrospective cohort study of patient history for a selected set of mothers who delivered preterm and a control group of mothers that delivered full-term. We analyzed the extracted data using logistic regression and random forests models. The results of our analyses showed that the highest risk ratio and variable importance corresponds to history of previous preterm delivery. Other risk factors were identified, some of which are consistent with those that are reported in the literature, others need further investigation.

Conclusions: The comparative analysis of the risk factors at different time points showed that risk factors in the early pregnancy related to patient history and chronic condition, while the risk factors in late pregnancy are specific to the current pregnancy. Our analysis unifies several previously reported studies on preterm risk factors. It also gives important insights on the changes of risk factors in the course of pregnancy. The code used for data analysis will be made available on github.

Background: Cardiopulmonary exercise testing (CPET) provides a reliable and reproducible approach to measuring fitness in patients and diagnosing their health problems. However, the data from CPET consist of multiple time series that require training to interpret. Part of this training teaches the use of flow charts or nested decision trees to interpret the CPET results. This paper investigates the use of two machine learning techniques using neural networks to predict patient health conditions with CPET data in contrast to flow charts. The data for this investigation comes from a small sample of patients with known health problems and who had CPET results. The small size of the sample data also allows us to investigate the use and performance of deep learning neural networks on health care problems with limited amounts of labeled training and testing data.

Methods: This paper compares the current standard for interpreting and classifying CPET data, flowcharts, to neural network techniques, autoencoders and convolutional neural networks (CNN). The study also investigated the performance of principal component analysis (PCA) with logistic regression to provide an additional baseline of comparison to the neural network techniques.

Results: The patients in the sample had two primary diagnoses: heart failure and metabolic syndrome. All model-based testing was done with 5-fold cross-validation and metrics of precision, recall, F1 score, and accuracy. As a baseline for comparison to our models, the highest performing flow chart method achieved an accuracy of 77%. Both PCA regression and CNN achieved an average accuracy of 90% and outperformed the flow chart methods on all metrics. The autoencoder with logistic regression performed the best on each of the metrics and had an average accuracy of 94%.

Conclusions: This study suggests that machine learning and neural network techniques, in particular, can provide higher levels of accuracy with CPET data than traditional flowchart methods. Further, the CNN performed well with a small data set showing that these techniques can be designed to perform well on small data problems that are often found in health care and the life sciences. Further testing with larger data sets is needed to continue evaluating the use of machine learning to interpret CPET data.

Objectives: Ascertain and compare the performances of Automated Machine Learning (AutoML) tools on large, highly imbalanced healthcare datasets.

Materials and methods: We generated a large dataset using historical de-identified administrative claims including demographic information and flags for disease codes in four different time windows prior to 2019. We then trained three AutoML tools on this dataset to predict six different disease outcomes in 2019 and evaluated model performances on several metrics.

Results: The AutoML tools showed improvement from the baseline random forest model but did not differ significantly from each other. All models recorded low area under the precision-recall curve and failed to predict true positives while keeping the true negative rate high. Model performance was not directly related to prevalence. We provide a specific use-case to illustrate how to select a threshold that gives the best balance between true and false positive rates, as this is an important consideration in medical applications.

Discussion: Healthcare datasets present several challenges for AutoML tools, including large sample size, high imbalance, and limitations in the available features. Improvements in scalability, combinations of imbalance-learning resampling and ensemble approaches, and curated feature selection are possible next steps to achieve better performance.

Conclusion: Among the three explored, no AutoML tool consistently outperforms the rest in terms of predictive performance. The performances of the models in this study suggest that there may be room for improvement in handling medical claims data. Finally, selection of the optimal prediction threshold should be guided by the specific practical application.