scholarly journals Formal axioms in biomedical ontologies improve analysis and interpretation of associated data

2019 ◽  
Vol 36 (7) ◽  
pp. 2229-2236 ◽  
Author(s):  
Fatima Zohra Smaili ◽  
Xin Gao ◽  
Robert Hoehndorf
Keyword(s):  
Machine Learning ◽  
Prediction Models ◽  
Background Knowledge ◽  
Knowledge Bases ◽  
Supplementary Information ◽  
Biomedical Ontologies ◽  
Learning Methods ◽  
Meta Data ◽  
Machine Learning Methods ◽  
Further Development

Abstract Motivation Over the past years, significant resources have been invested into formalizing biomedical ontologies. Formal axioms in ontologies have been developed and used to detect and ensure ontology consistency, find unsatisfiable classes, improve interoperability, guide ontology extension through the application of axiom-based design patterns and encode domain background knowledge. The domain knowledge of biomedical ontologies may have also the potential to provide background knowledge for machine learning and predictive modelling. Results We use ontology-based machine learning methods to evaluate the contribution of formal axioms and ontology meta-data to the prediction of protein–protein interactions and gene–disease associations. We find that the background knowledge provided by the Gene Ontology and other ontologies significantly improves the performance of ontology-based prediction models through provision of domain-specific background knowledge. Furthermore, we find that the labels, synonyms and definitions in ontologies can also provide background knowledge that may be exploited for prediction. The axioms and meta-data of different ontologies contribute to improving data analysis in a context-specific manner. Our results have implications on the further development of formal knowledge bases and ontologies in the life sciences, in particular as machine learning methods are more frequently being applied. Our findings motivate the need for further development, and the systematic, application-driven evaluation and improvement, of formal axioms in ontologies. Availability and implementation https://github.com/bio-ontology-research-group/tsoe. Supplementary information Supplementary data are available at Bioinformatics online.

scholarly journals Formal axioms in biomedical ontologies improve analysis and interpretation of associated data

2019 ◽  
Author(s):  
Fatima Zohra Smaili ◽  
Xin Gao ◽  
Robert Hoehndorf
Keyword(s):  
Data Analysis ◽  
Protein Interactions ◽  
Research Group ◽  
Prediction Models ◽  
Life Sciences ◽  
Background Knowledge ◽  
Knowledge Bases ◽  
Biomedical Ontologies ◽  
Meta Data ◽  
Further Development

AbstractMotivationThere are now over 500 ontologies in the life sciences. Over the past years, significant resources have been invested into formalizing these biomedical ontologies. Formal axioms in ontologies have been developed and used to detect and ensure ontology consistency, find unsatisfiable classes, improve interoperability, guide ontology extension through the application of axiom-based design patterns, and encode domain background knowledge. At the same time, ontologies have extended their amount of human-readable information such as labels and definitions as well as other meta-data. As a consequence, biomedical ontologies now form large formalized domain knowledge bases and have a potential to improve ontology-based data analysis by providing background knowledge and relations between biological entities that are not otherwise connected.ResultsWe evaluate the contribution of formal axioms and ontology meta-data to the ontology-based prediction of protein-protein interactions and gene–disease associations. We find that the formal axioms that have been created for the Gene Ontology and several other ontologies significantly improve ontology-based prediction models through provision of domain-specific background knowledge. Furthermore, we find that the labels, synonyms and definitions in ontologies can also provide background knowledge that may be exploited for prediction. The axioms and meta-data of different ontologies contribute in varying degrees to improving data analysis. Our results have major implications on the further development of formal knowledge bases and ontologies in the life sciences, in particular as machine learning methods are more frequently being applied. Our findings clearly motivate the need for further development, and the systematic, application-driven evaluation and improvement, of formal axioms in ontologies.Availabilityhttps://github.com/bio-ontology-research-group/[email protected], [email protected]

scholarly journals Machine Learning Methods Applied to the Prediction of Pseudo-nitzschia spp. Blooms in the Galician Rias Baixas (NW Spain)

2021 ◽  
Vol 10 (4) ◽  
pp. 199
Author(s):  
Francisco M. Bellas Aláez ◽  
Jesus M. Torres Palenzuela ◽  
Evangelos Spyrakos ◽  
Luis González Vilas
Keyword(s):  
Machine Learning ◽  
Performance Metrics ◽  
Prediction Models ◽  
Support Vector ◽  
False Alarms ◽  
Learning Approaches ◽  
Learning Methods ◽  
Machine Learning Methods ◽  
Rías Baixas ◽  
New Algorithms

This work presents new prediction models based on recent developments in machine learning methods, such as Random Forest (RF) and AdaBoost, and compares them with more classical approaches, i.e., support vector machines (SVMs) and neural networks (NNs). The models predict Pseudo-nitzschia spp. blooms in the Galician Rias Baixas. This work builds on a previous study by the authors (doi.org/10.1016/j.pocean.2014.03.003) but uses an extended database (from 2002 to 2012) and new algorithms. Our results show that RF and AdaBoost provide better prediction results compared to SVMs and NNs, as they show improved performance metrics and a better balance between sensitivity and specificity. Classical machine learning approaches show higher sensitivities, but at a cost of lower specificity and higher percentages of false alarms (lower precision). These results seem to indicate a greater adaptation of new algorithms (RF and AdaBoost) to unbalanced datasets. Our models could be operationally implemented to establish a short-term prediction system.

scholarly journals Machine Learning in Aging: An Example of Developing Prediction Models for Serious Fall Injury in Older Adults

2020 ◽  
Vol 4 (Supplement_1) ◽  
pp. 268-269
Author(s):  
Jaime Speiser ◽  
Kathryn Callahan ◽  
Jason Fanning ◽  
Thomas Gill ◽  
Anne Newman ◽  
...  
Keyword(s):  
Machine Learning ◽  
Older Adults ◽  
Random Forest ◽  
Decision Tree ◽  
Prediction Models ◽  
Receiver Operating Curve ◽  
Learning Methods ◽  
Life Study ◽  
Fall Injury ◽  
Machine Learning Methods

Abstract Advances in computational algorithms and the availability of large datasets with clinically relevant characteristics provide an opportunity to develop machine learning prediction models to aid in diagnosis, prognosis, and treatment of older adults. Some studies have employed machine learning methods for prediction modeling, but skepticism of these methods remains due to lack of reproducibility and difficulty understanding the complex algorithms behind models. We aim to provide an overview of two common machine learning methods: decision tree and random forest. We focus on these methods because they provide a high degree of interpretability. We discuss the underlying algorithms of decision tree and random forest methods and present a tutorial for developing prediction models for serious fall injury using data from the Lifestyle Interventions and Independence for Elders (LIFE) study. Decision tree is a machine learning method that produces a model resembling a flow chart. Random forest consists of a collection of many decision trees whose results are aggregated. In the tutorial example, we discuss evaluation metrics and interpretation for these models. Illustrated in data from the LIFE study, prediction models for serious fall injury were moderate at best (area under the receiver operating curve of 0.54 for decision tree and 0.66 for random forest). Machine learning methods may offer improved performance compared to traditional models for modeling outcomes in aging, but their use should be justified and output should be carefully described. Models should be assessed by clinical experts to ensure compatibility with clinical practice.

scholarly journals Advances in Blast-Induced Impact Prediction—A Review of Machine Learning Applications

Minerals ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 601
Author(s):  
Nelson K. Dumakor-Dupey ◽  
Sampurna Arya ◽  
Ankit Jha
Keyword(s):  
Machine Learning ◽  
Prediction Models ◽  
Academic Research ◽  
Empirical Models ◽  
Rock Breakage ◽  
Environmental Implications ◽  
Learning Methods ◽  
Factors Affecting ◽  
Impact Prediction ◽  
Machine Learning Methods

Rock fragmentation in mining and construction industries is widely achieved using drilling and blasting technique. The technique remains the most effective and efficient means of breaking down rock mass into smaller pieces. However, apart from its intended purpose of rock breakage, throw, and heave, blasting operations generate adverse impacts, such as ground vibration, airblast, flyrock, fumes, and noise, that have significant operational and environmental implications on mining activities. Consequently, blast impact studies are conducted to determine an optimum blast design that can maximize the desirable impacts and minimize the undesirable ones. To achieve this objective, several blast impact estimation empirical models have been developed. However, despite being the industry benchmark, empirical model results are based on a limited number of factors affecting the outcomes of a blast. As a result, modern-day researchers are employing machine learning (ML) techniques for blast impact prediction. The ML approach can incorporate several factors affecting the outcomes of a blast, and therefore, it is preferred over empirical and other statistical methods. This paper reviews the various blast impacts and their prediction models with a focus on empirical and machine learning methods. The details of the prediction methods for various blast impacts—including their applications, advantages, and limitations—are discussed. The literature reveals that the machine learning methods are better predictors compared to the empirical models. However, we observed that presently these ML models are mainly applied in academic research.

scholarly journals Classification models using circulating neutrophil transcripts can detect unruptured intracranial aneurysm

2020 ◽  
Vol 18 (1) ◽  
Author(s):  
Kerry E. Poppenberg ◽  
Vincent M. Tutino ◽  
Lu Li ◽  
Muhammad Waqas ◽  
Armond June ◽  
...  
Keyword(s):  
Machine Learning ◽  
Random Forest ◽  
Prediction Models ◽  
Model Performance ◽  
Supervised Machine Learning ◽  
Support Vector ◽  
Learning Methods ◽  
Training Cohort ◽  
Network Analyses ◽  
Machine Learning Methods

Abstract Background Intracranial aneurysms (IAs) are dangerous because of their potential to rupture. We previously found significant RNA expression differences in circulating neutrophils between patients with and without unruptured IAs and trained machine learning models to predict presence of IA using 40 neutrophil transcriptomes. Here, we aim to develop a predictive model for unruptured IA using neutrophil transcriptomes from a larger population and more robust machine learning methods. Methods Neutrophil RNA extracted from the blood of 134 patients (55 with IA, 79 IA-free controls) was subjected to next-generation RNA sequencing. In a randomly-selected training cohort (n = 94), the Least Absolute Shrinkage and Selection Operator (LASSO) selected transcripts, from which we constructed prediction models via 4 well-established supervised machine-learning algorithms (K-Nearest Neighbors, Random Forest, and Support Vector Machines with Gaussian and cubic kernels). We tested the models in the remaining samples (n = 40) and assessed model performance by receiver-operating-characteristic (ROC) curves. Real-time quantitative polymerase chain reaction (RT-qPCR) of 9 IA-associated genes was used to verify gene expression in a subset of 49 neutrophil RNA samples. We also examined the potential influence of demographics and comorbidities on model prediction. Results Feature selection using LASSO in the training cohort identified 37 IA-associated transcripts. Models trained using these transcripts had a maximum accuracy of 90% in the testing cohort. The testing performance across all methods had an average area under ROC curve (AUC) = 0.97, an improvement over our previous models. The Random Forest model performed best across both training and testing cohorts. RT-qPCR confirmed expression differences in 7 of 9 genes tested. Gene ontology and IPA network analyses performed on the 37 model genes reflected dysregulated inflammation, cell signaling, and apoptosis processes. In our data, demographics and comorbidities did not affect model performance. Conclusions We improved upon our previous IA prediction models based on circulating neutrophil transcriptomes by increasing sample size and by implementing LASSO and more robust machine learning methods. Future studies are needed to validate these models in larger cohorts and further investigate effect of covariates.

scholarly journals TADA: phylogenetic augmentation of microbiome samples enhances phenotype classification

2019 ◽  
Vol 35 (14) ◽  
pp. i31-i40 ◽  
Author(s):  
Erfan Sayyari ◽  
Ban Kawas ◽  
Siavash Mirarab
Keyword(s):  
Machine Learning ◽  
Sample Size ◽  
Data Augmentation ◽  
Training Data ◽  
Supplementary Information ◽  
High Dimensional ◽  
Learning Methods ◽  
Machine Learning Methods ◽  
Phenotype Classification ◽  
Microbiome Data

Abstract Motivation Learning associations of traits with the microbial composition of a set of samples is a fundamental goal in microbiome studies. Recently, machine learning methods have been explored for this goal, with some promise. However, in comparison to other fields, microbiome data are high-dimensional and not abundant; leading to a high-dimensional low-sample-size under-determined system. Moreover, microbiome data are often unbalanced and biased. Given such training data, machine learning methods often fail to perform a classification task with sufficient accuracy. Lack of signal is especially problematic when classes are represented in an unbalanced way in the training data; with some classes under-represented. The presence of inter-correlations among subsets of observations further compounds these issues. As a result, machine learning methods have had only limited success in predicting many traits from microbiome. Data augmentation consists of building synthetic samples and adding them to the training data and is a technique that has proved helpful for many machine learning tasks. Results In this paper, we propose a new data augmentation technique for classifying phenotypes based on the microbiome. Our algorithm, called TADA, uses available data and a statistical generative model to create new samples augmenting existing ones, addressing issues of low-sample-size. In generating new samples, TADA takes into account phylogenetic relationships between microbial species. On two real datasets, we show that adding these synthetic samples to the training set improves the accuracy of downstream classification, especially when the training data have an unbalanced representation of classes. Availability and implementation TADA is available at https://github.com/tada-alg/TADA. Supplementary information Supplementary data are available at Bioinformatics online.

Tropical principal component analysis on the space of phylogenetic trees

2020 ◽  
Vol 36 (17) ◽  
pp. 4590-4598
Author(s):  
Robert Page ◽  
Ruriko Yoshida ◽  
Leon Zhang
Keyword(s):  
Machine Learning ◽  
Principal Component Analysis ◽  
Phylogenetic Trees ◽  
Principal Component ◽  
Component Analysis ◽  
Fixed Number ◽  
Supplementary Information ◽  
Gene Trees ◽  
Learning Methods ◽  
Machine Learning Methods

Abstract Motivation Due to new technology for efficiently generating genome data, machine learning methods are urgently needed to analyze large sets of gene trees over the space of phylogenetic trees. However, the space of phylogenetic trees is not Euclidean, so ordinary machine learning methods cannot be directly applied. In 2019, Yoshida et al. introduced the notion of tropical principal component analysis (PCA), a statistical method for visualization and dimensionality reduction using a tropical polytope with a fixed number of vertices that minimizes the sum of tropical distances between each data point and its tropical projection. However, their work focused on the tropical projective space rather than the space of phylogenetic trees. We focus here on tropical PCA for dimension reduction and visualization over the space of phylogenetic trees. Results Our main results are 2-fold: (i) theoretical interpretations of the tropical principal components over the space of phylogenetic trees, namely, the existence of a tropical cell decomposition into regions of fixed tree topology; and (ii) the development of a stochastic optimization method to estimate tropical PCs over the space of phylogenetic trees using a Markov Chain Monte Carlo approach. This method performs well with simulation studies, and it is applied to three empirical datasets: Apicomplexa and African coelacanth genomes as well as sequences of hemagglutinin for influenza from New York. Availability and implementation Dataset: http://polytopes.net/Data.tar.gz. Code: http://polytopes.net/tropica_MCMC_codes.tar.gz. Supplementary information Supplementary data are available at Bioinformatics online.

scholarly journals learnMET: an R package to apply machine learning methods for genomic prediction using multi-environment trial data

2021 ◽  
Author(s):  
Cathy C. Westhues ◽  
Henner Simianer ◽  
Timothy M. Beissinger
Keyword(s):  
Machine Learning ◽  
Genomic Prediction ◽  
Prediction Models ◽  
R Package ◽  
Fixed Number ◽  
Environmental Data ◽  
Weather Data ◽  
Learning Methods ◽  
Machine Learning Methods ◽  
Daily Weather Data

We introduce the R-package learnMET, developed as a flexible framework to enable a collection of analyses on multi-environment trial (MET) breeding data with machine learning-based models. learnMET allows the combination of genomic information with environmental data such as climate and/or soil characteristics. Notably, the package offers the possibility of incorporating weather data from field weather stations, or can retrieve global meteorological datasets from a NASA database. Daily weather data can be aggregated in daily windows based on naive (for instance, daily windows with a fixed number of days) or phenological approaches. Different machine learning methods for genomic prediction are implemented, including gradient boosted trees, random forests, stacked ensemble models, and multi-layer perceptrons. These prediction models can be evaluated via a collection of cross-validation schemes that mimic typical scenarios encountered by plant breeders working with MET experimental data in a user-friendly way. The package is fully open source and accessible on GitHub.

scholarly journals Development of a Probabilistic Seismic Performance Assessment Model of Slope Using Machine Learning Methods

2020 ◽  
Vol 12 (8) ◽  
pp. 3269
Author(s):  
Shinyoung Kwag ◽  
Daegi Hahm ◽  
Minkyu Kim ◽  
Seunghyun Eem
Keyword(s):  
Machine Learning ◽  
Regression Analysis ◽  
Linear Regression ◽  
Seismic Performance ◽  
Prediction Models ◽  
Linear Regression Analysis ◽  
Assessment Model ◽  
Support Vector ◽  
Learning Methods ◽  
Machine Learning Methods

The objective of this study is to propose a model that can predict the seismic performance of slope relatively accurately and efficiently by using machine learning methods. Probabilistic seismic fragility analyses of the slope had been carried out in other studies, and a closed-form equation for slope seismic performance was proposed through a multiple linear regression analysis. However, the traditional statistical linear regression analysis showed a limit that could not accurately represent such nonlinear slope seismic performances. To overcome this limit, in this study, we used three machine learning methods (i.e., support vector machine (SVM), artificial neural network (ANN), Gaussian process regression (GPR)) to generate prediction models of the slope seismic performance. The models obtained through the machine learning methods basically showed better performance compared to the models of the traditional statistical methods. The results of the SVM showed no significant performance difference compared with the results of the nonlinear regression analysis method, but the results based on the ANN and GPR showed a remarkable improvement in the prediction performance over the other models. Furthermore, this study confirmed that the GPR-based model predicted relatively accurate seismic performance values compared with the model through the ANN.

scholarly journals Machine Learning in Aging: An Example of Developing Prediction Models for Serious Fall Injury in Older Adults

2020 ◽  
Author(s):  
Jaime Lynn Speiser ◽  
Kathryn E Callahan ◽  
Denise K Houston ◽  
Jason Fanning ◽  
Thomas M Gill ◽  
...  
Keyword(s):  
Machine Learning ◽  
Older Adults ◽  
Random Forest ◽  
Decision Tree ◽  
Prediction Models ◽  
Learning Methods ◽  
Life Study ◽  
Fall Injury ◽  
Machine Learning Methods ◽  
Using Data

Abstract Background Advances in computational algorithms and the availability of large datasets with clinically relevant characteristics provide an opportunity to develop machine learning prediction models to aid in diagnosis, prognosis, and treatment of older adults. Some studies have employed machine learning methods for prediction modeling, but skepticism of these methods remains due to lack of reproducibility and difficulty in understanding the complex algorithms that underlie models. We aim to provide an overview of two common machine learning methods: decision tree and random forest. We focus on these methods because they provide a high degree of interpretability. Method We discuss the underlying algorithms of decision tree and random forest methods and present a tutorial for developing prediction models for serious fall injury using data from the Lifestyle Interventions and Independence for Elders (LIFE) study. Results Decision tree is a machine learning method that produces a model resembling a flow chart. Random forest consists of a collection of many decision trees whose results are aggregated. In the tutorial example, we discuss evaluation metrics and interpretation for these models. Illustrated using data from the LIFE study, prediction models for serious fall injury were moderate at best (area under the receiver operating curve of 0.54 for decision tree and 0.66 for random forest). Conclusions Machine learning methods offer an alternative to traditional approaches for modeling outcomes in aging, but their use should be justified and output should be carefully described. Models should be assessed by clinical experts to ensure compatibility with clinical practice.

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