Disease Classification in Metagenomics with 2D Embeddings and Deep Learning

Deep learning (DL) techniques have shown unprecedented success when applied to images, waveforms, and text. Generally, when the sample size ($N$) is much bigger than the number of features ($d$), DL often outperforms other machine learning (ML) techniques, often through the use of Convolutional Neural Networks (CNNs). However, in many bioinformatics fields (including metagenomics), we encounter the opposite situation where $d$ is significantly greater than $N$. In these situations, applying DL techniques would lead to severe overfitting. Here we aim to improve classification of various diseases with metagenomic data through the use of CNNs. For this we proposed to represent metagenomic data as images. The proposed Met2Img approach relies on taxonomic and t-SNE embeddings to transform abundance data into "synthetic images". We applied our approach to twelve benchmark data sets including more than 1400 metagenomic samples. Our results show significant improvements over the state-of-the-art algorithms (Random Forest (RF), Support Vector Machine (SVM)). We observe that the integration of phylogenetic information alongside abundance data improves classification. The proposed approach is not only important in classification setting but also allows to visualize complex metagenomic data. The Met2Img is implemented in Python.

Deep Learning for Metagenomic Data: using 2D Embeddings and Convolutional Neural Networks

Deep learning (DL) techniques have had unprecedented success when applied to images, waveforms, and texts to cite a few. In general, when the sample size (N) is much greater than the number of features (d), DL outperforms previous machine learning (ML) techniques, often through the use of convolution neural networks (CNNs). However, in many bioinformatics ML tasks, we encounter the opposite situation where d is greater than N. In these situations, applying DL techniques (such as feed-forward networks) would lead to severe overfitting. Thus, sparse ML techniques (such as LASSO e.g.) usually yield the best results on these tasks. In this paper, we show how to apply CNNs on data which do not have originally an image structure (in particular on metagenomic data). Our first contribution is to show how to map metagenomic data in a meaningful way to 1D or 2D images. Based on this representation, we then apply a CNN, with the aim of predicting various diseases. The proposed approach is applied on six different datasets including in total over 1000 samples from various diseases. This approach could be a promising one for prediction tasks in the bioinformatics field.

Use of the C4.5 machine learning algorithm to test a clinical guideline-based decision support system

Well-designed medical decision support system (DSS) have been shown to improve health care quality. However, before they can be used in real clinical situations, these systems must be extensively tested, to ensure that they conform to the clinical guidelines (CG) on which they are based. Existing methods cannot be used for the systematic testing of all possible test cases. We describe here a new exhaustive dynamic verification method. In this method, the DSS is considered to be a black box, and the Quinlan C4.5 algorithm is used to build a decision tree from an exhaustive set of DSS input vectors and outputs. This method was successfully used for the testing of a medical DSS relating to chronic diseases: the ASTI critiquing module for type 2 diabetes.