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 17 of 17 for “"array CGH"”.
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Hidden Markov Model inference copy number change in array-CGH data
… novel oncogenes and tumor suppressors. Recently, array based competitive genomic hybridization (array-CGH) has become available as a powerful approach for genome-wide detection of DNA copy number changes. Array-CGH assesses DNA copy number in tumor samples through competitive hybridization on …
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Comparative analysis of algorithms for identifying copy number variation in array CGH data
… for identifying copy number variation in array CGH data. Circular Binary segmentation (CBS), CGH segmentation, Price —Smith—Waterman algorithm (the three algorithms are a part of ADaCGH tool) and Cluster Along Chromosome (CLAC) which is not publicly available were studied and used for the …
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Molekular-zytogenetische Untersuchungen und Expressionsanalysen des Multiplen Myeloms
Durch die Kombination von SKY-, Array-CGH-, und Expressionsnanalysen wurden ausgewählte MM-Zelllinien auf Aberrationen hin untersucht und diese genauer analysiert. 32 Myelom-Patienten wurden mittels Array-CGH-Analyse untersucht und aufgrund ihrer Aberrationen und der klinischen Daten durch eine …
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High resolution DNA copy number analysis of constitutional chromosomal aberrations in human genomic disorders
… for detection of CNVs. This technique, termed array comparative genomic hybridization (array CGH), allows the genome wide screening for submicroscopic aberrations in one single experiment. Array CGH uses reporter DNA molecules more or less evenly spread throughout the entire genome which are …
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The pathogenesis of classical Hodgkin lymphoma : investigation of possible viral pathogens and recurrent chromosomal imbalances
… of molecular cytogenetic techniques (i.e. array-comparative genomic hybridisation (CGH) are overcoming these difficulties. To investigate a potential candidate virus, DNA samples from cHL biopsies were screened for the measles virus (MV) and polyomaviruses (PyV), using immunohistochemistry …
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Developing and Optimizing Conditions for Single Cell Genetic Analysis
… to generate sufficient DNA for eventual use in array comparative genomic hybridization (CGH) to determine chromosome complement. Sporadic MDA results occurred at the single cell level; larger cell quantities consistently amplified. MDA can generate sufficient quantities of DNA for array CGH. …
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Trisomies in Hematologic Malignancies
… (FISH) analysis and high-resolution genome-wide array-based comparative genome hybridization (array CGH), respectively, in order to determine whether this chromosome abnormality was truly isolated or if there were additional, cytogenetically cryptic, anomalies present. Whereas multicolor-FISH, …
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Genetic changes in the development of multiple myeloma
… progression of MGUS and SMM. High resolution array CGH showed an increasing level of genomic complexity from MGUS (n=25) to SMM (n=15) to MM (n=47) to PCL (n=11). In MGUS, the number of copy number changes per case was highly associated with progression (P=0.003). The simplest profiles …
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Parents' experiences of genetic diagnosis in their child: an exploratory study
… such as Next Generation Sequencing and array CGH. Very little is known about the impact of such diagnoses on parents, and the parents’ need for support following<br/>testing. We, therefore, used a qualitative methodology to explore the effect of diagnosis on parents and to identify areas …
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Genomic characterization of ETV6/RUNX1-positive acute lymphoblastic leukemia
… ALLs were characterized using array CGH. This revealed that gain of Xq material, present in six cases, was the most common copy number aberration (CNA). A large number of genes was present in the commonly gained region but the high and specific expression of SPANXB identified …
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The structure and evolution of breast cancer genomes
… lines, HCC1187, VP229 and VP267 using data from array painting, SNP6 array CGH, molecular cytogenetics and massively parallel paired end sequencing. I then used these structural genomic maps to predict fusion transcripts and demonstrated expression of five fusion transcripts in HCC1187, three in …
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Functional Analysis of the F-box protein Fbxl17
… the METABRIC dataset, consisting of segmented array-CGH copy number data, and paired-end whole-genome DNA and RNA sequencing data from primary breast tumours, we found that the F-box protein encoded by FBXL17 is frequently rearranged in breast cancer. F-box proteins are the …
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A clinicopathological and molecular genetic analysis of low-grade glioma in adults
… methylation analysis, copy number analysis using array comparative genomic hybridisation and identification of differentially expressed miRNAs using miRNA microarray analysis. IDH1 mutation was present at a frequency of 71% in low grade glioma and was identified as an independent marker for …
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The Role of Acidic Fibroblast Growth Factor and Fibroblast Growth Factor Receptor 4 In High Grade Serous Carcinoma
… correlation studies on data generated from array CGH and transcriptome profiling analyses on 51 microdissected tumor samples were used to identify genes located on chromosome 5q31-35.3 that showed significant correlation between DNA and mRNA copy numbers<strong>. </strong>Significant …
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Estudio de rendimiento diagnóstico y análisis de resultados de la secuenciación del exoma clínico en pacientes con discapacidad intelectual.
… causa que explicara su DI, así como estudio de array-CGH y estudio molecular de X frágil con resultado normal. Se recogieron las variables de interés mediante revisión de las historias clínicas y se realizó un análisis estadístico buscando asociación con la obtención de un diagnóstico molecular …
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Genetic and epigenetic characterization of pediatric high hyperdiploid acute lymphoblastic leukemia
… cluster and principal component analyses of BAC array chromosome-wide methylome profiles accurately subgrouped the t(12;21) and HeH ALL subtypes, demonstrating that they are characterized by subtype specific methylomes. Analysis of promoter-specific CpG islands demonstrated that several B-cell- …