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 39 for “"SNP array"”.
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Utilizing Haplotypes For Sensitive Snp Array-Based Discovery of Somatic Chromosomal Mutations
… alterations and CNLOH mutations using DNA microarrays. The major innovation of the method is the use of phase concordance as a robust metric to measure evidence of allelic imbalance in the face of sporadic phasing errors in the statistical haplotype estimates and stochastic variation in the …
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Through the layers of the Ethiopian genome: a survey of human genetic variation based on genome-wide genotyping and re-sequencing data
… populations were typed on an Illumina Omni 1M SNP array. The results showed a good concordance between genetic and linguistic stratification and, overall, a complex population structure placing the Ethiopians in between North and Sub Saharan Africans, due to the recent non African gene flow …
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Bayesian Hidden Markov Models for finding DNA Copy Number Changes from SNP Genotyping Arrays
… CNVs from single nucleotide polymorphism (SNP) arrays. A Bayesian framework to reconstruct the DNA copy number sequence from the observed sequence of SNP array measurements is proposed. A Markov chain Monte Carlo (MCMC) algorithm, with a forward-backward stochastic algorithm for sampling …
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The clinical value of genetic analyses of bone and soft tissue tumors
… a pediatric giant fibroadenoma was analyzed with SNP array, revealing trisomies, uniparental isodisomy for chromosomes 10, 11 and 22 and a homozygous deletion of PARVA, indicating that SNP array provides information on pediatric breast tumors. In paper III we showed that the balanced translocation …
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Molecular Genetic Characterization of Acute Lymphoblastic Leukemia with a Poor Prognosis
… the genetic landscape of adult ALL, we performed SNP array analysis on 126 ALL cases. Characteristic deletions seen in pediatric ALL were detected, furthermore, comparison of diagnostic and relapse clonal relationship showed evolution from an ancestral clone in the majority of cases, highlighting …
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Characterisation of genetic complexity in chronic lymphocytic leukaemia
… high resolution single nucleotide polymorphism (SNP) array. NGS analysis of the immunoglobulin variable heavy-chain (IgHV) in 497 pre-treatment CLL patients found IgHV subclones in 18.5%, far higher than previously reported. SNP array analysis in 411 CLL patients refined the minimally overlapping …
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GENOMIC AND EPIGENETIC APPROACHES IN THE CLINICAL AND PROGNOSTIC STRATIFICATION OF CHRONIC LYMPHOCYTIC LEUKEMIA
… using both genomic (integrated FISH and microarray technology) and an epigenetic approach in highly purified B-cell populations obtained from early-stage CLLs (Binet stage A). The availability of information concerning the follow-up of the analyzed patients allowed the investigation of a …
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Genetic Characterization of Pediatric T-cell Acute Lymphoblastic Leukemia
… hybridization, single nucleotide polymorphism (SNP) array, and deep sequencing of 75 selected candidate genes – to characterize co-operative genetic aberrations in a consecutive series of paediatric T-ALL (Article V). One common change identified by SNP array was segemtal uniparental isodisomy …
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Evaluating populations derived from complex crosses involving both bread wheat and durum wheat parentage for partial resistance to crown rot
… lines. Genotypic assessment, performed through a SNP array, identified associations between marker genotype and crown rot severity for the family originating from the parents EGA Bellaroi 38a and Sumai 3. Moreover, the frequency of QTL for crown rot partial resistance already published was …
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Accurate Identification of Significant Aberrations in Cancer Genome: Implementation and Applications
… Advanced genome profiling technologies, such as SNP array technology, facilitate copy number study at a genome-wide scale with high resolution. However, due to normal tissue contamination, the observed intensity signals are actually the mixture of copy number signals contributed from both tumor …
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Computational Analysis of Genome-Wide DNA Copy Number Changes
… genes in tumorigenesis. Recent development of SNP array technology has facilitated studies on copy number changes at a genome-wide scale, with high resolution. Quantitative analysis of somatic CNAs on genes has found broad applications in cancer research. Most tumors exhibit genomic instability …
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Identification Of Candidate Genes For Self-Compatibility In A Diploid Population Of Potato Derived From Parents Used In Genome Sequencing
… using a single nucleotide polymorphism (SNP) array. Polymorphic and robust SNPs were analyzed by Fisher\'s Exact Test to identify allelic states segregating with the self-compatible phenotype. Filtering 1966 SNPs to retain only those with p-values less than 0.0001 yielded 95 highly …
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GENETIC PARAMETERS FOR HEAT AND SALINITY STRESS TOLERANCE IN NORTHERN GULF OF MEXICO EASTERN OYSTER, CRASSOSTREA VIRGINICA
… <p>Parentage was recovered using a 192 SNP array and the heritability (h<sup>2</sup>) of tolerance traits and genetic correlations were estimated using linear mixed models. Heritability of heat stress tolerance in seed was low and did not differ significantly from zero (0.216±0.199). …
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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 Labrador Retriever as a Model of Naturally Occurring Myopia: Genetic and Environmental Contributions
… for canine refractive error using a genome wide SNP array with a myopic case group and a non-myopic control group. Results: A significant prevalence (37%) of myopia was found within the pedigree studied. Familial aggregation analysis demonstrated a significant genetic contribution, as well as …
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Investigation of the genetic components of maternal infanticide in Sus Scrofa
… used a genotyping approach using the pig 60K SNP array from Illumina. Two different tests were used to analyse the data: Family Based Association Test (FBAT) and Parent of Origin (PO) test. The FBAT approach uses pedigree information to test for association in the presence of linkage and the …
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Novel genomic technologies and molecular diagnostics in Colorectal Cancer
… single nucleotide polymorphism/CNV microarrays (SNP Array 6.0) and two new tools were implemented, Broad Cytogenetic Analysis (BroCyA) and Focal Cytogenetic Analysis (FoCyA), to identify broad (> 1⁄4 chromosomal arm) and focal aberrations (< 1⁄4 chromosomal arm). Broad copy number gains …
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Investigation of the role of copy number variation in the susceptibility to systemic lupus erythematosus
… genes with CNVs, Affymetrix Human Genome-wide SNP array 5.0 analysis was performed across 66 samples from our APOSLE (Australian Point Mutations in SLE) cohort. 24, 094 CNVs were identified, however, low log2R values suggested many were likely to be false positive CNVs. For this reason, we used …
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The genetic determinants of vigour control and precocity by pear (Pyrus communis L.) rootstocks
… genotyping tools, the Infinium® II 9K apple/pear SNP array and the genotyping-by-sequencing (GBS) approach. QTLs influencing expression of scion vigour and precocity were detected on linkage groups (LG)5 and LG6 of OH and LG6 of LBJ. The LG5 QTL was found in the same genomic region as the dwarfing …
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