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 53 for “"CNVs"”.
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Análisis de herramientas bioinformáticas para la detección de CNVs en muestras de pacientes mediante secuenciación de exoma completo (WES)
… secuenciación más adecuada para el análisis de CNVs por que obtenemos una muy buena cobertura de las regiones de análisis a un coste menor. El presente Trabajo de fin de Máster (TFM) se ha centrado en la detección y en el análisis de estas variaciones estructurales a nivel de número de copias …
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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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Investigation of the role of copy number variation in the susceptibility to systemic lupus erythematosus
… Most recently, Copy Number Variations (CNVs) have been shown to be ubiquitously present in unrelated healthy subjects and contribute substantially to phenotypic variation in the human population. Furthermore, there is increasing evidence that CNVs contribute to the pathogenesis in …
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Investigation of the role of copy number variation in the susceptibility to systemic lupus erythematosus
… Most recently, Copy Number Variations (CNVs) have been shown to be ubiquitously present in unrelated healthy subjects and contribute substantially to phenotypic variation in the human population. Furthermore, there is increasing evidence that CNVs contribute to the pathogenesis in …
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Investigation of Copy Number Variation in South African Patients with Congenital Heart Defects
… 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 identify pathogenic and …
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Clinical Interpretation of Novel Copy Number Variations
Copy Number Variations: CNVs) are a significant source of human genetic diversity and are believed to be responsible for a wide variety of phenotypic variation. Recent advances in microarray-based genomic hybridization techniques have facilitated CNV analysis as a viable diagnostic technique in the …
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Using network clustering to predict copy number variations associated with health disparities
… in the United States. Copy number variations (CNVs) are one form of human genetic variations that have been linked with complex diseases and often occur at different frequencies among African Americans and Caucasian populations. In this study, we aimed to investigate whether CNVs with …
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Repetitive Sequences Drive Rapid Adaptation in Candida albicans
… plasticity resulting in copy number variations (CNVs) and loss of heterozygosity (LOH) confer increased virulence and antifungal drug resistance, yet the mechanisms and dynamics that drive these types of genome plasticity are not completely understood. In this dissertation, we build on …
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Discovery and Characterization of Rare Genomic Copy Number Variants in Children with Developmental Coordination Disorder
… 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 increased rates of rare …
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An evaluation of genomic factors and their importance in etiopathogenesis of congenital heart diseases /
… percent) pathogenic copy number variations (CNVs) were determined in the group of subjects. These results show that pathogenic CNVs are frequent causative variants in the genome in the etiology of syndromic CHDs and CHDs, manifesting themselves with other developmental anomalies and/or …
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Genominių veiksnių įvertinimas ir reikšmė įgimtų širdies ydų etiopatogenezėje /
… percent) pathogenic copy number variations (CNVs) were determined in the group of subjects. These results show that pathogenic CNVs are frequent causative variants in the genome in the etiology of syndromic CHDs and CHDs, manifesting themselves with other developmental anomalies and/or …
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Investigation of de-novo copy number variants in patients with Autism Spectrum Disorder in Vietnam
… 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 considered as the …
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Single nucleotide polymorphism array analysis in copy number variant detection: assessment of its feasibility in the diagnostic setting
… 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 used to detect …
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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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ROLE OF GENOMIC COPY NUMBER VARIATION IN ALZHEIMER'S DISEASE AND MILD COGNITIVE IMPAIRMENT
… 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 been shown to play a …
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Identification of Genetic Copy Number Variants in Neurodevelopmental Disorders from Genome Sequence Data
… 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, there are no established …
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The functional impact of copy number variation in the human genome
… (SNP) as markers, the majority of disease CNVs discovered so far have low population frequencies and are mainly involved in rare developmental disorders. Another strategy to improve interpretation of genomic variants is to establish a predictive understanding of their functional impact. …
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Transcriptional consequences of genetic variation on single cells in development and cancer
… 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 sequencing (WGS) data, …
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Genetic Analysis of Taste in Homo Sapiens
… polymorphisms (SNPs) and copy number variations (CNVs) in known taste and taste pathway receptors TAS2R38, Gustin, and TRPM5 and for PROP (6-n-propylthiouracil) taster status (PTS), thermal taster status (TTS), and orosensory sensation intensity ratings. PTS is a proxy for general taste …
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Computational Insights Into The Generation of Chromosomal Copy Number Changes
… of cells. Indeed, copy number variants (CNVs) serve as hallmarks of critical changes in the development of particular diseases such as cancer and thus may be used as biomarkers. These CNVs may be either inherited (transmitted by germ cells, originating in meiosis; “germline”) or acquired …
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