A Kernel based Study of the Association between Copy Number Variants and Disease-related Traits

Maus Esfahani, Nastaran

A Kernel based Study of the Association between Copy Number Variants and Disease-related Traits

Maus Esfahani, Nastaran

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Publication Type:: Thesis
Issue Date:: 2022

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Field	Value	Language
dc.contributor.author	Maus Esfahani, Nastaran
dc.date.accessioned	2023-10-03T04:26:12Z
dc.date.available	2023-10-03T04:26:12Z
dc.date.issued	2022
dc.identifier.uri	http://hdl.handle.net/10453/172441
dc.description	University of Technology Sydney. Faculty of Engineering and Information Technology.	en_US.UTF-8
dc.description.abstract	Copy number variants (CNVs) are the most common form of structural genetic variation, reflecting the gain or loss of DNA segments compared with a reference genome. Studies have shown that CNVs are linked to various disorders like autism, intellectual disability, and schizophrenia. Consequently, the interest in studying a possible association of CNVs to specific disease traits is growing. However, due to the specific multi-dimensional characteristics of the CNVs, methods for testing the association between CNVs and disease-related traits are still few and underdeveloped. The research presented in this thesis addresses several aspects of research on the association between CNVs and disease-related traits, and the broader concepts of the association between CNV sequential order with adverse phenotype, and the association of the CNV and other genetic variation interactions with disease-related traits.	en_US.UTF-8
dc.format	Thesis (PhD)
dc.language.iso	en_US	en_US.UTF-8
dc.relation	https://opus.lib.uts.edu.au/bitstream/10453/172441/2/02whole.pdf
dc.rights	info:eu-repo/semantics/openAccess
dc.rights	The author owns the copyright in this thesis including all reproduction and reuse rights for the work. The work may not be altered without the permission of the copyright owner. Attribution is essential when quoting or paraphrasing from this thesis.
dc.rights	© 2022 Nastaran Maus Esfahani
dc.rights	au.edu.uts.lib/cph
dc.title	A Kernel based Study of the Association between Copy Number Variants and Disease-related Traits	en_US.UTF-8
dc.type	Thesis
utslib.copyright.status	open_access	*

Abstract:

Copy number variants (CNVs) are the most common form of structural genetic variation, reflecting the gain or loss of DNA segments compared with a reference genome. Studies have shown that CNVs are linked to various disorders like autism, intellectual disability, and schizophrenia. Consequently, the interest in studying a possible association of CNVs to specific disease traits is growing. However, due to the specific multi-dimensional characteristics of the CNVs, methods for testing the association between CNVs and disease-related traits are still few and underdeveloped. The research presented in this thesis addresses several aspects of research on the association between CNVs and disease-related traits, and the broader concepts of the association between CNV sequential order with adverse phenotype, and the association of the CNV and other genetic variation interactions with disease-related traits.

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http://hdl.handle.net/10453/172441