scholarly journals Importance of GWAS risk loci and clinical data in predicting asthma using machine-learning approaches

2020 ◽  
Author(s):  
Si-Qiao Liang ◽  
Jian-Xiong Long ◽  
Jingmin Deng ◽  
Xuan Wei ◽  
Mei-Ling Yang ◽  
...  

Abstract Asthma is a serious immune-mediated respiratory airway disease. Its pathological processes involve genetics and the environment, but it remains unclear. To understand the risk factors of asthma, we combined genome-wide association study (GWAS) risk loci and clinical data in predicting asthma using machine-learning approaches. A case–control study with 123 asthma patients and 100 healthy controls was conducted in Zhuang population in Guangxi. GWAS risk loci were detected using polymerase chain reaction, and clinical data were collected. Machine-learning approaches (e.g., extreme gradient boosting [XGBoost], decision tree, support vector machine, and random forest algorithms) were used to identify the major factors that contributed to asthma. A total of 14 GWAS risk loci with clinical data were analyzed on the basis of 10 times of 10-fold cross-validation for all machine-learning models. Using GWAS risk loci or clinical data, the best performances were area under the curve (AUC) values of 64.3% and 71.4%, respectively. Combining GWAS risk loci and clinical data, the XGBoost established the best model with an AUC of 79.7%, indicating that the combination of genetics and clinical data can enable improved performance. We then sorted the importance of features and found that the top six risk factors for predicting asthma were rs3117098, rs7775228, family history, rs2305480, rs4833095, and body mass index. Asthma-prediction models based on GWAS risk loci and clinical data can accurately predict asthma and thus provide insights into the disease pathogenesis of asthma. Further research is required to evaluate more genetic markers and clinical data and predict asthma risk.

Diagnostics ◽  
2021 ◽  
Vol 11 (10) ◽  
pp. 1909
Author(s):  
Dougho Park ◽  
Eunhwan Jeong ◽  
Haejong Kim ◽  
Hae Wook Pyun ◽  
Haemin Kim ◽  
...  

Background: Functional outcomes after acute ischemic stroke are of great concern to patients and their families, as well as physicians and surgeons who make the clinical decisions. We developed machine learning (ML)-based functional outcome prediction models in acute ischemic stroke. Methods: This retrospective study used a prospective cohort database. A total of 1066 patients with acute ischemic stroke between January 2019 and March 2021 were included. Variables such as demographic factors, stroke-related factors, laboratory findings, and comorbidities were utilized at the time of admission. Five ML algorithms were applied to predict a favorable functional outcome (modified Rankin Scale 0 or 1) at 3 months after stroke onset. Results: Regularized logistic regression showed the best performance with an area under the receiver operating characteristic curve (AUC) of 0.86. Support vector machines represented the second-highest AUC of 0.85 with the highest F1-score of 0.86, and finally, all ML models applied achieved an AUC > 0.8. The National Institute of Health Stroke Scale at admission and age were consistently the top two important variables for generalized logistic regression, random forest, and extreme gradient boosting models. Conclusions: ML-based functional outcome prediction models for acute ischemic stroke were validated and proven to be readily applicable and useful.


2019 ◽  
Vol 12 (1) ◽  
pp. 05-27
Author(s):  
Everton Jose Santana ◽  
João Augusto Provin Ribeiro Da silva ◽  
Saulo Martiello Mastelini ◽  
Sylvio Barbon Jr

Investing in the stock market is a complex process due to its high volatility caused by factors as exchange rates, political events, inflation and the market history. To support investor's decisions, the prediction of future stock price and economic metrics is valuable. With the hypothesis that there is a relation among investment performance indicators,  the goal of this paper was exploring multi-target regression (MTR) methods to estimate 6 different indicators and finding out the method that would best suit in an automated prediction tool for decision support regarding predictive performance. The experiments were based on 4 datasets, corresponding to 4 different time periods, composed of 63 combinations of weights of stock-picking concepts each, simulated in the US stock market. We compared traditional machine learning approaches with seven state-of-the-art MTR solutions: Stacked Single Target, Ensemble of Regressor Chains, Deep Structure  for Tracking Asynchronous Regressor Stacking,   Deep  Regressor Stacking, Multi-output Tree Chaining,  Multi-target Augment Stacking  and Multi-output Random Forest (MORF). With the exception of MORF, traditional approaches and the MTR methods were evaluated with Extreme Gradient Boosting, Random Forest and Support Vector Machine regressors. By means of extensive experimental evaluation, our results showed that the most recent MTR solutions can achieve suitable predictive performance, improving all the scenarios (14.70% in the best one, considering all target variables and periods). In this sense, MTR is a proper strategy for building stock market decision support system based on prediction models.


2020 ◽  
Author(s):  
Fadoua Ben Azzouz ◽  
Bertrand Michel ◽  
Hamza Lasla ◽  
Wilfried Gouraud ◽  
Anne-Flore François ◽  
...  

AbstractTriple-negative breast cancer (TNBC) heterogeneity represents one of the main impediment to precision medicine for this disease. Recent concordant transcriptomics studies have shown that TNBC could be splitted into at least three subtypes with potential therapeutic implications. Although, a few studies have been done to predict TNBC subtype by means of transcriptomics data, subtyping was partially sensitive and limited by batch effect and dependence to a given dataset, which may penalize the switch to routine diagnostic testing. Therefore, we sought to build an absolute predictor (i.e. intra-patient diagnosis) based on machine learning algorithm with a limited number of probes. To this end, we started by introducing probe binary comparison for each patient (indicators). We based predictive analysis on this transformed data. Probe selection was first performed by combining both filter and wrapper methods for variable selection using cross validation. We thus tested three prediction models (random forest, gradient boosting [GB] and extreme gradient boosting) using this optimal subset of indicators as inputs. Nested cross-validation allowed us to consistently choose the best model. Results showed that the 50 selected indicators highlighted biological characteristics associated with each TNBC subtype. The GB based on this subset of indicators has better performances as compared to the other models.


2021 ◽  
Author(s):  
Íris Viana dos Santos Santana ◽  
Andressa C. M. da Silveira ◽  
Álvaro Sobrinho ◽  
Lenardo Chaves e Silva ◽  
Leandro Dias da Silva ◽  
...  

BACKGROUND controlling the COVID-19 outbreak in Brazil is considered a challenge of continental proportions due to the high population and urban density, weak implementation and maintenance of social distancing strategies, and limited testing capabilities. OBJECTIVE to contribute to addressing such a challenge, we present the implementation and evaluation of supervised Machine Learning (ML) models to assist the COVID-19 detection in Brazil based on early-stage symptoms. METHODS firstly, we conducted data preprocessing and applied the Chi-squared test in a Brazilian dataset, mainly composed of early-stage symptoms, to perform statistical analyses. Afterward, we implemented ML models using the Random Forest (RF), Support Vector Machine (SVM), Multilayer Perceptron (MLP), K-Nearest Neighbors (KNN), Decision Tree (DT), Gradient Boosting Machine (GBM), and Extreme Gradient Boosting (XGBoost) algorithms. We evaluated the ML models using precision, accuracy score, recall, the area under the curve, and the Friedman and Nemenyi tests. Based on the comparison, we grouped the top five ML models and measured feature importance. RESULTS the MLP model presented the highest mean accuracy score, with more than 97.85%, when compared to GBM (> 97.39%), RF (> 97.36%), DT (> 97.07%), XGBoost (> 97.06%), KNN (> 95.14%), and SVM (> 94.27%). Based on the statistical comparison, we grouped MLP, GBM, DT, RF, and XGBoost, as the top five ML models, because the evaluation results are statistically indistinguishable. The ML models` importance of features used during predictions varies from gender, profession, fever, sore throat, dyspnea, olfactory disorder, cough, runny nose, taste disorder, and headache. CONCLUSIONS supervised ML models effectively assist the decision making in medical diagnosis and public administration (e.g., testing strategies), based on early-stage symptoms that do not require advanced and expensive exams.


2021 ◽  
pp. 1-33
Author(s):  
Stéphane Loisel ◽  
Pierrick Piette ◽  
Cheng-Hsien Jason Tsai

Abstract Modeling policyholders’ lapse behaviors is important to a life insurer, since lapses affect pricing, reserving, profitability, liquidity, risk management, and the solvency of the insurer. In this paper, we apply two machine learning methods to lapse modeling. Then, we evaluate the performance of these two methods along with two popular statistical methods by means of statistical accuracy and profitability measure. Moreover, we adopt an innovative point of view on the lapse prediction problem that comes from churn management. We transform the classification problem into a regression question and then perform optimization, which is new to lapse risk management. We apply the aforementioned four methods to a large real-world insurance dataset. The results show that Extreme Gradient Boosting (XGBoost) and support vector machine outperform logistic regression (LR) and classification and regression tree with respect to statistic accuracy, while LR performs as well as XGBoost in terms of retention gains. This highlights the importance of a proper validation metric when comparing different methods. The optimization after the transformation brings out significant and consistent increases in economic gains. Therefore, the insurer should conduct optimization on its economic objective to achieve optimal lapse management.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sung-Hwi Hur ◽  
Eun-Young Lee ◽  
Min-Kyung Kim ◽  
Somi Kim ◽  
Ji-Yeon Kang ◽  
...  

AbstractImpacted mandibular third molars (M3M) are associated with the occurrence of distal caries on the adjacent mandibular second molars (DCM2M). In this study, we aimed to develop and validate five machine learning (ML) models designed to predict the occurrence of DCM2Ms due to the proximity with M3Ms and determine the relative importance of predictive variables for DCM2Ms that are important for clinical decision making. A total of 2642 mandibular second molars adjacent to M3Ms were analyzed and DCM2Ms were identified in 322 cases (12.2%). The models were trained using logistic regression, random forest, support vector machine, artificial neural network, and extreme gradient boosting ML methods and were subsequently validated using testing datasets. The performance of the ML models was significantly superior to that of single predictors. The area under the receiver operating characteristic curve of the machine learning models ranged from 0.88 to 0.89. Six features (sex, age, contact point at the cementoenamel junction, angulation of M3Ms, Winter's classification, and Pell and Gregory classification) were identified as relevant predictors. These prediction models could be used to detect patients at a high risk of developing DCM2M and ultimately contribute to caries prevention and treatment decision-making for impacted M3Ms.


2021 ◽  
Author(s):  
Yafei Wu ◽  
Zhongquan Jiang ◽  
Shaowu Lin ◽  
Ya Fang

BACKGROUND Prediction of stroke based on individuals’ risk factors, especially for a first stroke event, is of great significance for primary prevention of high-risk populations. OBJECTIVE This study aimed to investigate the applicability of machine learning for predicting stroke onset in older adults compared with statistical model. METHODS A total of 5960 participants consecutively surveyed from 2011 to 2013 in the China Health and Retirement Longitudinal Study were included for analysis. We constructed a traditional logistic regression (LR) and two machine learning methods, namely random forest (RF) and extreme gradient boosting (XGBoost), to identify stroke onset using epidemiological and clinical variables. Grid search and 10-fold cross validation were used to tune hyperparameters. Model performance was assessed by discrimination, calibration, decision curve and predictiveness curve analysis. RESULTS Among the 5960 participants, 131 (2.20%) of them developed stroke after an average of 2-year follow-up. Our prediction models distinguished stroke versus non-stroke with excellent performance. The AUCs of machine learning (RF, 0.823[95% CI, 0.759-0.886]; XGBoost, 0.808[95% CI, 0.730-0.886]) were significantly higher than LR (0.718[95% CI, 0.649, 0.787], p<0.05). No significant difference was observed between RF and XGBoost (p>0.05). All prediction models had good calibration results with brier score of approximately 0.020. XGBoost had much higher net benefits within a wider threshold range and more capable of recognizing high risk individuals in terms of decision curve and predictiveness curve analysis. Biomarker information were more capable for stroke prediction than epidemiological data. CONCLUSIONS Machine learning, especially for XGBoost, had potential to predict stroke onset among the elderly in the population-based study.


2020 ◽  
Author(s):  
Albert Morera ◽  
Juan Martínez de Aragón ◽  
José Antonio Bonet ◽  
Jingjing Liang ◽  
Sergio de-Miguel

Abstract BackgroundThe prediction of biogeographical patterns from a large number of driving factors with complex interactions, correlations and non-linear dependences require advanced analytical methods and modelling tools. This study compares different statistical and machine learning models for predicting fungal productivity biogeographical patterns as a case study for the thorough assessment of the performance of alternative modelling approaches to provide accurate and ecologically-consistent predictions.MethodsWe evaluated and compared the performance of two statistical modelling techniques, namely, generalized linear mixed models and geographically weighted regression, and four machine learning models, namely, random forest, extreme gradient boosting, support vector machine and deep learning to predict fungal productivity. We used a systematic methodology based on substitution, random, spatial and climatic blocking combined with principal component analysis, together with an evaluation of the ecological consistency of spatially-explicit model predictions.ResultsFungal productivity predictions were sensitive to the modelling approach and complexity. Moreover, the importance assigned to different predictors varied between machine learning modelling approaches. Decision tree-based models increased prediction accuracy by ~7% compared to other machine learning approaches and by more than 25% compared to statistical ones, and resulted in higher ecological consistence at the landscape level.ConclusionsWhereas a large number of predictors are often used in machine learning algorithms, in this study we show that proper variable selection is crucial to create robust models for extrapolation in biophysically differentiated areas. When dealing with spatial-temporal data in the analysis of biogeographical patterns, climatic blocking is postulated as a highly informative technique to be used in cross-validation to assess the prediction error over larger scales. Random forest was the best approach for prediction both in sampling-like environments as well as in extrapolation beyond the spatial and climatic range of the modelling data.


2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Albert Morera ◽  
Juan Martínez de Aragón ◽  
José Antonio Bonet ◽  
Jingjing Liang ◽  
Sergio de-Miguel

Abstract Background The prediction of biogeographical patterns from a large number of driving factors with complex interactions, correlations and non-linear dependences require advanced analytical methods and modeling tools. This study compares different statistical and machine learning-based models for predicting fungal productivity biogeographical patterns as a case study for the thorough assessment of the performance of alternative modeling approaches to provide accurate and ecologically-consistent predictions. Methods We evaluated and compared the performance of two statistical modeling techniques, namely, generalized linear mixed models and geographically weighted regression, and four techniques based on different machine learning algorithms, namely, random forest, extreme gradient boosting, support vector machine and artificial neural network to predict fungal productivity. Model evaluation was conducted using a systematic methodology combining random, spatial and environmental blocking together with the assessment of the ecological consistency of spatially-explicit model predictions according to scientific knowledge. Results Fungal productivity predictions were sensitive to the modeling approach and the number of predictors used. Moreover, the importance assigned to different predictors varied between machine learning modeling approaches. Decision tree-based models increased prediction accuracy by more than 10% compared to other machine learning approaches, and by more than 20% compared to statistical models, and resulted in higher ecological consistence of the predicted biogeographical patterns of fungal productivity. Conclusions Decision tree-based models were the best approach for prediction both in sampling-like environments as well as in extrapolation beyond the spatial and climatic range of the modeling data. In this study, we show that proper variable selection is crucial to create robust models for extrapolation in biophysically differentiated areas. This allows for reducing the dimensions of the ecosystem space described by the predictors of the models, resulting in higher similarity between the modeling data and the environmental conditions over the whole study area. When dealing with spatial-temporal data in the analysis of biogeographical patterns, environmental blocking is postulated as a highly informative technique to be used in cross-validation to assess the prediction error over larger scales.


2019 ◽  
Vol 21 (9) ◽  
pp. 662-669 ◽  
Author(s):  
Junnan Zhao ◽  
Lu Zhu ◽  
Weineng Zhou ◽  
Lingfeng Yin ◽  
Yuchen Wang ◽  
...  

Background: Thrombin is the central protease of the vertebrate blood coagulation cascade, which is closely related to cardiovascular diseases. The inhibitory constant Ki is the most significant property of thrombin inhibitors. Method: This study was carried out to predict Ki values of thrombin inhibitors based on a large data set by using machine learning methods. Taking advantage of finding non-intuitive regularities on high-dimensional datasets, machine learning can be used to build effective predictive models. A total of 6554 descriptors for each compound were collected and an efficient descriptor selection method was chosen to find the appropriate descriptors. Four different methods including multiple linear regression (MLR), K Nearest Neighbors (KNN), Gradient Boosting Regression Tree (GBRT) and Support Vector Machine (SVM) were implemented to build prediction models with these selected descriptors. Results: The SVM model was the best one among these methods with R2=0.84, MSE=0.55 for the training set and R2=0.83, MSE=0.56 for the test set. Several validation methods such as yrandomization test and applicability domain evaluation, were adopted to assess the robustness and generalization ability of the model. The final model shows excellent stability and predictive ability and can be employed for rapid estimation of the inhibitory constant, which is full of help for designing novel thrombin inhibitors.


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