Abstract
In this thesis, I aimed to solve part of the missing heritability in neurodevelopmental disorders, using computational approaches. Next to the investigations of a novel epilepsy syndrome and investigations aiming to elucidate the regulation of the gene involved, I investigated and prioritized genomic sequences that have implications in gene regulation during the developmental stages of human brain, with the goal to create an atlas of high confidence non-coding regulatory elements that future studies can assess for genetic variants in genetically unexplained individuals suffering from neurodevelopmental disorders that are of suspected genetic origin.
| Original language | English |
|---|---|
| Awarding Institution |
|
| Supervisors/Advisors |
|
| Award date | 11 Apr 2023 |
| Place of Publication | Rotterdam |
| Print ISBNs | 978-94-6419-706-8 |
| Publication status | Published - 11 Apr 2023 |