Abstract
BACKGROUND: Deep generative models naturally become nonlinear dimension reduction tools to visualize large-scale datasets such as single-cell RNA sequencing datasets for revealing latent grouping patterns or identifying outliers. The variational autoencoder (VAE) is a popular deep generative method equipped with encoder/decoder structures. The encoder and decoder are useful when a new sample is mapped to the latent space and a data point is generated from a point in a latent space. However, the VAE tends not to show grouping pattern clearly without additional annotation information. On the other hand, similarity-based dimension reduction methods such as t-SNE or UMAP present clear grouping patterns even though these methods do not have encoder/decoder structures. RESULTS: To bridge this gap, we propose a new approach that adopts similarity information in the VAE framework. In addition, for biological applications, we extend our approach to a conditional VAE to account for covariate effects in the dimension reduction step. In the simulation study and real single-cell RNA sequencing data analyses, our method shows great performance compared to existing state-of-the-art methods by producing clear grouping structures using an inferred encoder and decoder. Our method also successfully adjusts for covariate effects, resulting in more useful dimension reduction. CONCLUSIONS: Our method is able to produce clearer grouping patterns than those of other regularized VAE methods by utilizing similarity information encoded in the data via the highly celebrated UMAP loss function.