Neurogenomics at scale: Expanding the computational toolbox to uncover novel genetic and epigenetic determinants of neurodegenerative disease

Abstract

The work described in this thesis sought to uncover genetic and epigenetic factors contributing to neurodegenerative disease, identify genes involved in epigenetic regulation, and develop methodology and tools to facilitate this research. This work culminated in the discovery of DNA methylation signatures associated with ALS, novel rare variants contributing to ALS and Parkinson’s disease, and genes involved in DNA methylation regulation. Additionally, it describes the development of methodology and R packages to enhance the quality control and analysis of large-scale DNA methylation and sequencing datasets.