Exploring missing heritability in neurodevelopmental disorders: Learning from regulatory elements

Soheil Yousefi

Research output: Types of ThesisDoctoral ThesisInternal

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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 languageEnglish
Awarding Institution
  • Erasmus University Rotterdam
Supervisors/Advisors
  • Elgersma, Ype, Supervisor
  • Barakat, Stefan, Co-supervisor
  • Mulugeta, Eskeatnaf, Co-supervisor
Award date11 Apr 2023
Place of PublicationRotterdam
Print ISBNs978-94-6419-706-8
Publication statusPublished - 11 Apr 2023

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