Farhad Yousefi Razin
Variational Autoencoders for Multi-Omic Transcriptomic and Epigenomic Data.
Rel. Roberta Bardini, Stefano Di Carlo, Alessandro Savino, Lorenzo Martini. Politecnico di Torino, Corso di laurea magistrale in Data Science And Engineering, 2026
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Abstract
Single-cell approaches provide insights into individual cells, enabling measurement of gene expression and chromatin accessibility (Peaks). However, understanding how they influence each other remains a central challenge, since regulatory interactions span long genomic distances, as well as the sparsity and high dimensionality of single-cell data. This thesis investigates the use of Variational Autoencoders (VAEs) to model the relationships between gene expression and chromatin accessibility. The single-cell matrices of gene expression and peaks were obtained from the PBMC 3k and PBMC 10k datasets (10x Genomics), which relate to human immune cells. Three VAE-based architectures were implemented, including the main Gene–Peak–Gene (GPG) model, a reverse Peak–Gene–Peak (PGP) model, and a dual VAE with a shared loss term.
The GPG model achieved the best performance
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