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 variations"”.
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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
… Americans and Caucasians 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 …
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An investigation of Epstein-Barr Virus (EBV) latency type and MYC gene aberrations in plasmablastic lymphoma diagnosed at Groote Schuur Hospital, Cape Town, South Africa
… in 8 (26.7%) and 11 (36.7 %) cases showed copy number variations. Conclusion: Our research demonstrated 37 (90.2%) of the EBV positive PBL cases showed a restricted latency pattern of 0 or 1. Furthermore we found that MYC gene aberrations consisting of translocations and copy number …
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High resolution optical DNA mapping
… including cancer and autism are associated with copy-number variations in the genome. Most of these variations could not be identified with existing sequencing and optical DNA mapping methods. We have developed Multi-color Super-resolution technique, with potential for high throughput and low …
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Machine Learning Methods for Single Cell RNA-Sequencing Data to Improve Clinical Oncology
… developing methods to account for somatic copy number variations in tumor samples, benchmarking large, pre-trained scRNA-seq foundation models, and creating a framework for predicting clinical outcomes using patient-level representations of single-cell data. Together, these studies aim to …
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The Role of HNF4A in Germ Cell Tumor Development
… yolk sac tumors. Multiple recurrent chromosomal copy number variations are the primary genetic lesions discovered in yolk sac tumors. Frequent gains of chromosome 20q13 provide clues as to the identity of important YST driver genes. We have determined that the Hepatocyte Nuclear Factor 4 alpha …
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READING THROUGH THE BUILDING BLOCKS OF THE GENOME: EXONIC VARIATION IN PARKINSON'S DISEASE
… Two major cellular events able to trigger exonic variations in both DNA and mRNA molecules will be examined: copy number variations and alternative splicing. Both mechanisms are well known to play a crucial role in PD onset and can modulate disease severity. An improved comprehension of exonic …
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A novel compound heterozygous NEB mutationin Korean patients with intellectual disability, epilepsy,and acongenital myopathy
… tests to detect chromosomal aberrations, gene copy number variations, and candidate gene and mitochondrial gene mutations. After finding no abnormality ,I conducted whole exome sequencing (WES)in this family. After filtering the WES data, I compared five exome sequences of two affected …
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Reprogramming human somatic cells to pluripotency using RNA
… that RNA reprogramming can yield lines free of copy number variations. The very high efficiency of this technique allowed us to reprogram single adult fibroblasts to pluripotency with a 44% success rate (n = 9). Our results suggest that the efficiency and kinetics of reprogramming methods need …
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aCGH en la consulta de neuropediatría: significado clínico e implicación pronóstica
… for detecting chromosomal alterations or copy number variations. aCGH has emerged as a premier diagnostic tool for investigating the genetic underpinnings of neurodevelopmental disorders. The aim of this study was to construct a database derived from aCGH analysis, facilitating systematic …
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Genetic Analysis of Taste in Homo Sapiens
… single nucleotide 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 …
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Repetitive Sequences Drive Rapid Adaptation in Candida albicans
… Candida albicans, genome 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 …
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CHARACTERIZATION OF GENETIC AND EPIGENETIC MODIFICATIONS IN A MODEL OF INFLAMMATION-DRIVEN CANCER
… sequencing, we observed a high frequency of copy number amplifications and a very low number of point mutations in HCC nodules. Copy number variations occurrence was directly correlated to the grade of malignancy in each lesion. The JNK pathway was shown to be pervasively targeted by gene …
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An evaluation of genomic factors and their importance in etiopathogenesis of congenital heart diseases /
… was used and 44 (17.39 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 …
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Genominių veiksnių įvertinimas ir reikšmė įgimtų širdies ydų etiopatogenezėje /
… was used and 44 (17.39 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 …
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Bayesian Hidden Markov Models for finding DNA Copy Number Changes from SNP Genotyping Arrays
DNA copy number variations (CNVs), which involve the deletion or duplication of subchromosomal segments of the genome, have become a focus of genetics research. This dissertation develops Bayesian HMMs for finding CNVs from single nucleotide polymorphism (SNP) arrays. A Bayesian framework to …
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Investigation of the role of copy number variation in the susceptibility to systemic lupus erythematosus
… has a strong genetic component. 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 …
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Investigation of the role of copy number variation in the susceptibility to systemic lupus erythematosus
… has a strong genetic component. 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 …
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Integrating Functional Genomics with Systems Biology to Discover Drivers and Therapeutic Targets of Human Malignancies
… genomic data including gene expression profiles, copy number variations from large-sampled primary patients and cell lines allows us to tackle underlying drivers causally associated with tumorigenesis or drug-resistance. In my dissertation, I have developed a framework to integrate functional RNAi …
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Harnessing New Genomics Technologies to Assess Environmental Risk Factors That May Cause Heritable Genetic Disease
… males were screened for the induction of large copy number variations (CNVs). The quantity of CNVs in the BaP group was not significantly greater than controls; however, the types of CNVs were different, suggesting that BaP preferentially induces higher numbers of duplications. Fourth, genomes …
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