Machine learning has been gaining traction in recent years to meet the demand for tools that can efficiently analyze and make sense of the ever-growing databases of biomedical data in health care systems around the world. However, effectively using machine learning methods requires considerable domain expertise, which can be a barrier of entry for bioinformaticians new to computational data science methods. Therefore, off-the-shelf tools that make machine learning more accessible can prove invaluable for bioinformaticians. To this end, we have developed an open source pipeline optimization tool (TPOT-MDR) that uses genetic programming to automatically design machine learning pipelines for bioinformatics studies. In TPOT-MDR, we implement Multifactor Dimensionality Reduction (MDR) as a feature construction method for modeling higher-order feature interactions, and combine it with a new expert knowledge-guided feature selector for large biomedical data sets. We demonstrate TPOT-MDR's capabilities using a combination of simulated and real world data sets from human genetics and find that TPOT-MDR significantly outperforms modern machine learning methods such as logistic regression and eXtreme Gradient Boosting (XGBoost). We further analyze the best pipeline discovered by TPOT-MDR for a real world problem and highlight TPOT-MDR's ability to produce a high-accuracy solution that is also easily interpretable.
Narrowing the focus to automated machine learning in bioinformatics, the literature is far more sparse. One such example is @cite_32 , in which they analyze metabolomics data using a modified Bayesian optimization algorithm integrated with the classification algorithms provided in WEKA, a suite of machine learning software written in Java. The Bayesian optimization provided feature subset selection, which filtered irrelevant and redundant features from the datasets to achieve dimensionality reduction. These techniques lead to an improvement of classification accuracy.
@cite_32
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Objectives: To investigate whether (1) machine learning classifiers can help identify nonrandomized studies eligible for full-text screening by systematic reviewers; (2) classifier performance varies with optimization; and (3) the number of citations to screen can be reduced. Methods: We used an open-source, data-mining suite to process and classify biomedical citations that point to mostly nonrandomized studies from 2 systematic reviews. We built training and test sets for citation portions and compared classifier performance by considering the value of indexing, various feature sets, and optimization. We conducted our experiments in 2 phases. The design of phase I with no optimization was: 4 classifiersx3 feature setsx3 citation portions. Classifiers included k-nearest neighbor, naive Bayes, complement naive Bayes, and evolutionary support vector machine. Feature sets included bag of words, and 2- and 3-term n-grams. Citation portions included titles, titles and abstracts, and full citations with metadata. Phase II with optimization involved a subset of the classifiers, as well as features extracted from full citations, and full citations with overweighted titles. We optimized features and classifier parameters by manually setting information gain thresholds outside of a process for iterative grid optimization with 10-fold cross-validations. We independently tested models on data reserved for that purpose and statistically compared classifier performance on 2 types of feature sets. We estimated the number of citations needed to screen by reviewers during a second pass through a reduced set of citations. Results: In phase I, the evolutionary support vector machine returned the best recall for bag of words extracted from full citations; the best classifier with respect to overall performance was k-nearest neighbor. No classifier attained good enough recall for this task without optimization. In phase II, we boosted performance with optimization for evolutionary support vector machine and complement naive Bayes classifiers. Generalization performance was better for the latter in the independent tests. For evolutionary support vector machine and complement naive Bayes classifiers, the initial retrieval set was reduced by 46 and 35 , respectively. Conclusions: Machine learning classifiers can help identify nonrandomized studies eligible for full-text screening by systematic reviewers. Optimization can markedly improve performance of classifiers. However, generalizability varies with the classifier. The number of citations to screen during a second independent pass through the citations can be substantially reduced.