Dataset Information

Using rule-based machine learning for candidate disease gene prioritization and sample classification of cancer gene expression data.

ABSTRACT: Microarray data analysis has been shown to provide an effective tool for studying cancer and genetic diseases. Although classical machine learning techniques have successfully been applied to find informative genes and to predict class labels for new samples, common restrictions of microarray analysis such as small sample sizes, a large attribute space and high noise levels still limit its scientific and clinical applications. Increasing the interpretability of prediction models while retaining a high accuracy would help to exploit the information content in microarray data more effectively. For this purpose, we evaluate our rule-based evolutionary machine learning systems, BioHEL and GAssist, on three public microarray cancer datasets, obtaining simple rule-based models for sample classification. A comparison with other benchmark microarray sample classifiers based on three diverse feature selection algorithms suggests that these evolutionary learning techniques can compete with state-of-the-art methods like support vector machines. The obtained models reach accuracies above 90% in two-level external cross-validation, with the added value of facilitating interpretation by using only combinations of simple if-then-else rules. As a further benefit, a literature mining analysis reveals that prioritizations of informative genes extracted from BioHEL's classification rule sets can outperform gene rankings obtained from a conventional ensemble feature selection in terms of the pointwise mutual information between relevant disease terms and the standardized names of top-ranked genes.

SUBMITTER: Glaab E

PROVIDER: S-EPMC3394775 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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Using rule-based machine learning for candidate disease gene prioritization and sample classification of cancer gene expression data.

Glaab Enrico E Bacardit Jaume J Garibaldi Jonathan M JM Krasnogor Natalio N

PloS one 20120711 7

Microarray data analysis has been shown to provide an effective tool for studying cancer and genetic diseases. Although classical machine learning techniques have successfully been applied to find informative genes and to predict class labels for new samples, common restrictions of microarray analysis such as small sample sizes, a large attribute space and high noise levels still limit its scientific and clinical applications. Increasing the interpretability of prediction models while retaining ...[more]

PMID: 22808075

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Project description:BACKGROUND: Discovering novel disease genes is still challenging for diseases for which no prior knowledge--such as known disease genes or disease-related pathways--is available. Performing genetic studies frequently results in large lists of candidate genes of which only few can be followed up for further investigation. We have recently developed a computational method for constitutional genetic disorders that identifies the most promising candidate genes by replacing prior knowledge by experimental data of differential gene expression between affected and healthy individuals.To improve the performance of our prioritization strategy, we have extended our previous work by applying different machine learning approaches that identify promising candidate genes by determining whether a gene is surrounded by highly differentially expressed genes in a functional association or protein-protein interaction network. RESULTS: We have proposed three strategies scoring disease candidate genes relying on network-based machine learning approaches, such as kernel ridge regression, heat kernel, and Arnoldi kernel approximation. For comparison purposes, a local measure based on the expression of the direct neighbors is also computed. We have benchmarked these strategies on 40 publicly available knockout experiments in mice, and performance was assessed against results obtained using a standard procedure in genetics that ranks candidate genes based solely on their differential expression levels (Simple Expression Ranking). Our results showed that our four strategies could outperform this standard procedure and that the best results were obtained using the Heat Kernel Diffusion Ranking leading to an average ranking position of 8 out of 100 genes, an AUC value of 92.3% and an error reduction of 52.8% relative to the standard procedure approach which ranked the knockout gene on average at position 17 with an AUC value of 83.7%. CONCLUSION: In this study we could identify promising candidate genes using network based machine learning approaches even if no knowledge is available about the disease or phenotype.

Project description:BackgroundControlling the COVID-19 outbreak in Brazil is a challenge due to the population's size and urban density, inefficient maintenance of social distancing and testing strategies, and limited availability of testing resources.ObjectiveThe purpose of this study is to effectively prioritize patients who are symptomatic for testing to assist early COVID-19 detection in Brazil, addressing problems related to inefficient testing and control strategies.MethodsRaw data from 55,676 Brazilians were preprocessed, and the chi-square test was used to confirm the relevance of the following features: gender, health professional, fever, sore throat, dyspnea, olfactory disorders, cough, coryza, taste disorders, and headache. Classification models were implemented relying on preprocessed data sets; supervised learning; and the algorithms multilayer perceptron (MLP), gradient boosting machine (GBM), decision tree (DT), random forest (RF), extreme gradient boosting (XGBoost), k-nearest neighbors (KNN), support vector machine (SVM), and logistic regression (LR). The models' performances were analyzed using 10-fold cross-validation, classification metrics, and the Friedman and Nemenyi statistical tests. The permutation feature importance method was applied for ranking the features used by the classification models with the highest performances.ResultsGender, fever, and dyspnea were among the highest-ranked features used by the classification models. The comparative analysis presents MLP, GBM, DT, RF, XGBoost, and SVM as the highest performance models with similar results. KNN and LR were outperformed by the other algorithms. Applying the easy interpretability as an additional comparison criterion, the DT was considered the most suitable model.ConclusionsThe DT classification model can effectively (with a mean accuracy≥89.12%) assist COVID-19 test prioritization in Brazil. The model can be applied to recommend the prioritizing of a patient who is symptomatic for COVID-19 testing.

Dataset Information

Using rule-based machine learning for candidate disease gene prioritization and sample classification of cancer gene expression data.

Publications

Using rule-based machine learning for candidate disease gene prioritization and sample classification of cancer gene expression data.

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