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 22 for “"Copy number variants (CNVs)"”.
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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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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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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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Genetic Study of Copy Number Variant’s in Greek Patients with Early Onset Parkinson’s Disease
… Μονονουκλεοτιδικές παραλλαγές (single nucleotide variants, SNVs), προσθήκες ή διαγραφές νουκλεοτιδίων (insertions/deletions, Indels), καθώς και παραλλαγές του αριθμού αντιγράφων (copy number variants, CNVs) σε γονίδια που σχετίζονται με τη νόσο του Πάρκινσον έχουν ανιχνευθεί σε πολλούς πληθυσμούς …
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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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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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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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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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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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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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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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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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Computational Insights Into The Generation of Chromosomal Copy Number Changes
… alterations — such as duplications, deletions or copy-neutral loss-of-heterozygosity — are thus important forms of genetic variation for phenotyping populations of individuals as well as populations of cells. Indeed, copy number variants (CNVs) serve as hallmarks of critical changes in the …
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Investigation of Copy Number Variation in South African Patients with Congenital Heart Defects
… though heritable genetic factors including copy number variants (CNVs) have been shown to contribute to the risk of CHD in individuals of European ancestry. However, the role of rare CNVs in the development of CHD in African populations including South Africa is unknown. This study aims to …
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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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Transcriptional consequences of genetic variation on single cells in development and cancer
… designed to precisely identify cells carrying copy number variants (CNVs) in single-cell RNA sequencing (scRNA-seq) data. CNVs, frequently observed in human cancers, can serve as markers to track the development of cancer and subclones. By integrating the information from whole genome …
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MAPPING GENOMIC VARIANTS ASSOCIATED WITH FUNCTIONAL AND HEALTH TRAITS IN DAIRY CATTLE POPULATION
… (SNP), Runs of Homozygosity (ROH) and Copy Number Variants (CNVs). The results revealed that intensive selection for milk yield, applied to Holstein cattle during the first decades of the 20th century, strongly shaped the genome of the breed. This process reduced variability in some …
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Expanding the accuracy, resolution, and breadth of cell-free DNA investigation
… pregnancy, organ transplantation, and a growing number of cancers. Despite this promise, current methods for interrogating cfDNA are challenged by limited resolution, imperfect accuracy, and constrained breadth. Taken as a whole, these factors restrict the set of conditions that might in …
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IDENTIFICATION OF LOCI CONTRIBUTING TO THE SMITH-MAGENIS SYNDROME-LIKE PHENOTYPE AND MOLECULAR EVALUATION OF THE RETINOIC ACID INDUCED 1 GENE
… phenotype observed. We identified 6 pathogenic copy number variants (CNVs) in six individuals which contribute directly to the clinical phenotype, including two del(2)(q37). This study enabled us to draw relationships between SMS and other syndromes that had never been appreciated before and …
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