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In Bioinformatics (Oxford, England)

MOTIVATION : Following many successful applications to image data, deep learning is now also increasingly considered for omics data. In particular, generative deep learning not only provides competitive prediction performance, but also allows for uncovering structure by generating synthetic samples. However, exploration and visualization is not as straightforward as with image applications.

RESULTS : We demonstrate how log-linear models, fitted to the generated, synthetic data can be employed to extract patterns from omics data, learned by deep generative techniques. Specifically, interactions between latent representations learned by the approaches and generated synthetic data are used to determine sets of joint patterns. Distances of patterns with respect to the distribution of latent representations are then visualized in low-dimensional coordinate systems, e.g., for monitoring training progress. This is illustrated with simulated data and subsequently with cortical single cell gene expression data. Using different kinds of deep generative techniques, specifically variational autoencoders and deep Boltzmann machines, the proposed approach highlights how the techniques uncover underlying structure. It facilitates the real world use of such generative deep learning techniques in order to gain biological insights from omics data.

AVAILABILITY : The code for the approach as well as an accompanying Jupyter notebook, which illustrates the application of our approach, is available via the GitHub repository:

SUPPLEMENTARY INFORMATION : Supplementary data are available at Bioinformatics online.

Hess Moritz, Hackenberg Maren, Binder Harald