Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 31 for “"copy number variants"”.
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Frequency of Copy Number Variants Involving The Sex Chromosomes In A Clinical Setting
<p>Copy number variants (CNVs) are a common finding in the clinical setting and contribute to both genetic variation as well as disease. Recently, studies have described the accumulation of multiple CNVs as a disease modifying mechanism. While it has been characterized how additional CNVs may play …
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Identification of Genetic Copy Number Variants in Neurodevelopmental Disorders from Genome Sequence Data
… 7.0-13.6% of the population. Genetics (including copy number variants, CNVs) plays a central role in many of these disorders, but is yet to be fully understood. Many bioinformatic CNV detection tools have been developed to identify CNVs from whole exome or whole genome sequence reads. However, …
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Investigation of de-novo copy number variants in patients with Autism Spectrum Disorder in Vietnam
… more effective disease management strategies. Copy number variants (CNVs) are the alterations in the structure of chromosome and reported as a significant contribution to the pathogenesis of ASD. Currently, genome-wide DNA microarray (e.g. microarray comparative genomic hybridization (aCGH)) is …
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Discovery and Characterization of Rare Genomic Copy Number Variants in Children with Developmental Coordination Disorder
… disorders can partially be explained by rare copy number variants (CNVs). To assess the role CNVs may play in the genetics of DCD, the genomic landscape of CNVs was explored in 82 children with DCD, compared to 2,988 European controls. We were able to demonstrate that children with DCD had …
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Exploring the genetic landscape in cutaneous T-cell lymphoma with short- and long-read sequencing
… alterations. In general, there are recurrent copy-number variants and rare, single nucleotide variants that ultimately cluster in a limited number of pathways, including JAK-STAT- and T-cell receptor signaling. Currently, there is a lack of knowledge about the genetic changes in early and …
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From genetics to disease: Algorithms to decode somatic mutations
… a suite of computational tools to detect somatic copy number variants that likely arose during early embryonic development. We apply this tool set to establish that such CNVs contribute substantially to the risk of developing autism spectrum disorder in a small number of carriers. We next develop …
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Decoding Brain Somatic Mosaicism with New Single-Cell Copy Number Analysis Methods
Copy number variants (CNVs) represent a significant but understudied form of somatic variation in the human brain, with potential implications for neurodevelopment, aging and disease. While single-cell whole-genome sequencing (scWGS) enables genome-wide profiling at single-cell resolution, existing …
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Prevalence and prevention of large-scale somatic copy number alterations
… of megabases, as occurs with sub-chromosome copy number variants (CNVs) or whole-chromosome aneuploidy, is almost always associated with embryonic lethality or severe disease. However, while large-scale genomic imbalance has adverse consequences at the organismal level, both CNVs and …
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The Utilization of Prenatal Microarray: A Survey of Current Genetic Counseling Practices and Barriers
… microarray (CMA) assesses chromosome copy number variants (CNVs) missed by standard karyotyping. The American College of Obstetricians and Gynecologists (ACOG) recommends CMA for all patients with fetuses with an ultrasound anomaly and suggests that it be made available to all women …
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Deciphering the genetic and epigenetic basis of human imprinting and chromatin disorders
… insights into pathogenetic mechanisms of copy number variants (duplicates or deletions) and variants of uncertain significance (VUSs). In addition, genome-wide methylation profiling showed the potential to identify candidate genes involved in epigenetic disorders. My PhD research has …
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Single nucleotide polymorphism array analysis in copy number variant detection: assessment of its feasibility in the diagnostic setting
… using microarray technologies are due to copy number variants (CNVs), whereas only 3 to 5% of ID/DD can be identified with conventional cytogenetics. The Affymetrix® Cytoscan™ High Density (HD) Array (Affymetrix, Santa Clara, CA) containing over 2.4 million markers for copy number (CN) was …
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Deconvolute Brain Tumor Genomic Alterations Based On Dna Methylation
… based on mutations, expression subtypes, and copy number variants has improved diagnosis and treatment decision-making for patients with brain tumors, particularly malignant gliomas. However, the association between epigenetic signature and genetic alterations is poorly understood. For …
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Network based analysis of genetic disease associations
… increasingly the prevailing view is that common variants, the target of GWAS, are not solely responsible for susceptibility to common diseases and a substantial portion of human disease risk will be found among rare variants. Relatively new, such variants have not been subject to purifying …
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Optimizing analysis pipelines for improved variant discovery
… particular genomic features such as indels, Copy Number Variants (CNVs), or microsatellite repeats. Here is the development of accuracy measurements in read alignment and variation calls, allowing the optimization of sequencing pipelines at all stages. The underlying hypothesis, then, is that …
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ROLE OF GENOMIC COPY NUMBER VARIATION IN ALZHEIMER'S DISEASE AND MILD COGNITIVE IMPAIRMENT
… with the disease have been identified. Copy number variants (CNVs), a form of genetic variation, are DNA regions that have added genetic material (duplications) or loss of genetic material (deletions). The regions may overlap one or more genes possibly affecting their function. CNVs have …
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Computational methods for personalized cancer genomics
… the DawnRank scores in key driver mutations and copy number variants (CNVs) to identify breast cancer subtypes. We found 5 alternative subtypes based on potentially clinically relevant driver genes, each with unique defining target features and pathways. These subtypes correspond to and build …
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Sequencing in Isolation: Next-generation sequencing studies in founder populations
Although common variants are routinely assayed in populations, rare mutations and copy-number variants are understudied contributors to the aetiology of complex traits. Isolated populations hold the promise of increased power gains in detecting associations in rare and low-frequency variants that …
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Delineation of the genetic causes of complex epilepsies in South African pediatric patients
… features in children with and without candidate variants was performed to identify characteristics most likely predictive of a positive genetic finding. Results Pathogenic/likely pathogenic (P/LP) variants were identified in 41/234(17.5%) * probands. Of these, 29/234(12.4%) * were sequence …
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Exploring the camouflaged and non-coding genome: analysing difficult genomic regions in human disease genetics
The main objective of this thesis is to highlight the importance of investigating camouflaged regions, specifically segmental duplications, and non-coding regions, in the human genome. These regions, often overlooked due to their complexity, hold immense potential for uncovering novel insights into …
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Genetic and Environmental Factors Related to Child and Parent Mental Health in the Context of Intellectual Disabilities
… Chapter 3, I focus on CYP with rare pathogenic Copy Number Variants (CNVs) in IMAGINE-ID, exploring the genomic predictors of ID/DD and neurodevelopmental and mental health characteristics in this large and diverse group. The results indicate a complex interplay between CNV characteristics, CNV …
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