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.
Original language | English |
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Awarding Institution |
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Supervisors/Advisors |
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Award date | 13 Mar 2025 |
Place of Publication | Utrecht |
Publisher | |
Print ISBNs | 978-94-6506-915-9 |
DOIs | |
Publication status | Published - 13 Mar 2025 |
Keywords
- genetics
- epigenetics
- genomics
- epigenomics
- amyotrophic lateral sclerosis
- ALS
- Parkinson's disease
- PD
- bioinformatics
- neurodegenerative disease