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The human body hosts more microbial organisms than human cells. Analysis of this microbial diversity provides key insight into the role played by these microorganisms on human health. Metagenomics is the collective DNA sequencing of coexisting microbial organisms in an environmental sample or a host. This has several applications in precision medicine, agriculture, environmental science and forensics. State-of-the-art predictive models for phenotype predictions from metagenomic data rely on alignments, assembly, extensive pruning, taxonomic profiling and reference sequence databases. These processes are time consuming and they do not consider novel microbial sequences when aligned with the reference genome, limiting the potential of whole metagenomics. We formulate the problem of predicting human disease from whole-metagenomic data using Multiple Instance Learning (MIL), a popular supervised learning paradigm. Our proposed alignment-free approach provides higher accuracy in prediction by harnessing the capability of deep convolutional neural network (CNN) within a MIL framework and provides interpretability via neural attention mechanism.

IDMIL: an alignment-free Interpretable Deep Multiple Instance Learning (MIL) for predicting disease from whole-metagenomic data