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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 30 for “"SNP genotyping"”.
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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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A Novel SNP Genotyping Technique to Determine Orangutan Relatedness and Genetic Diversity at Camp Leakey in Tanjung Puting, Central Kalimantan
… human targeted single nucleotide polymorphism (SNP) microarray technology. I confirmed results of this new genotyping technique through standard microsatellite short tandem repeat (STR) micro-capillary genotyping. I estimate genetic diversity and relatedness (<em>r</em>) for 32 (21 female and 9 …
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Linear clustering with application to single nucleotide polymorphism genotyping
Single nucleotide polymorphisms (SNPs) have been increasingly popular for a wide range of genetic studies. A high-throughput genotyping technologies usually involves a statistical genotype calling algorithm. Most calling algorithms in the literature, using methods such as k-means and mixturemodels, …
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Genome complexity reduction for genome-wide single nucleotide polymorphism analysis
Millions of single nucleotide polymorphisms (SNPs) have been identified in the human genome, and more are cataloged every day. The challenge now is to use these SNPs to discover the genetic risk factors underlying common and complex diseases. Efficient, large-scale genotyping methods are one …
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Estudio del origen genético de la variedad de vid Garnacha Blanca, de su diversidad fenotípica y de los efectos moleculares asociados a la variación en el color de la uva
… with production and bunch compactness by SNP genotyping of chromosome 2 and next- generation sequencing strategies. In addition, we used white variants of Garnacha and Tempranillo to assess for direct and indirect consequences of the absence of anthocyanins in berry composition using …
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Genetic studies of candidate genes in the glycoalkaloid biosynthetic pathway of potato
… a candidate gene approach and a whole genome SNP genotyping analysis were used to assess allelic variation and to identify loci associated with biosynthesis and accumulation of steroidal glycoalkaloids (SGAs). SGAs are secondary metabolites produced in Solanum species as defense against …
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Risk prediction with genomic data
… of GWAS using Single Nucleotide Polymorphism (SNP) genotype data and a novel approach of disease risk prediction with whole exome sequencing data, namely Whole Exome Wide Association Study (WEWAS). It further applies a discriminating machine learning algorithm, namely a Support Vector Machine …
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Genomic analysis of mouse tumorigenesis
… asessment and single nucleotide polymorphism (SNP) genotyping using the SNaPshotM system (Applied Biosystems) to detect loss of heterozygosity (LOH) in mouse tumors. The murine version of ROMA was tested on DNA from early-stage KrasGJ2D-derived lung cancers and metastatic retinoblastoma in mice …
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The identification of candidate genes using cDNA microarray and the analysis of two SNPs of the reelin gene in a South African austistic population
… The aims of the study were (i) to genotype two SNPs (exonic rs3622691 and intronic rs736707) in the RELN gene using Taqman® SNP Genotyping assays to detect association with autism in three distinct South African (SA) ethnic groups (Black, Caucasian and Mixed), and (ii) to detect candidate genes …
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Novel molecular engineering approaches for genotyping and DNA sequencing
… sequencing and single nucleotide polymorphism (SNP) genotyping by mass spectrometry. These nucleotide analogs have a biotin moiety attached to the 5 position of the pyrimidines (C and U) or the 7 position of the purines (A and G) via a chemically cleavable azido-based linker, with different …
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Exploring the role of mu opioid receptor (OPRM1) and CYP2B6 gene variations for methadone pharmacogenomics. Can these variations be used to advance toxicological interpretation post-mortem?.
… (OPRM1) single nucleotide polymorphisms (SNPs). Using SNP genotyping, the association between OPRM1 A118G and CYP2B6 T750C, G516T, and A785G variations and post-mortem methadone concentrations were investigated. The allele frequencies of OPRM1 and CYP2B6 variants were then studied in a …
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Characterization and Molecular Analysis of University of Arkansas Peach, Prunus persica (L.) Batsch, Flesh Types and Development of a Post-Harvest Evaluation Protocol for Arkansas Peach and Nectarine Genotypes
… DNA extraction and endoPG-6, endoPG-1-SSR, and SNP genotyping. All genotyping was conducted by a collaborating lab with the assistance of the RosBREED project. All results were compared to assess the accuracy of analysis, determine genotype flesh types, and find associations between allelic …
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Exploring candidate genes and rhizosphere microbiome in relation to iron cycling in Andean potatoes
… We employed multiple approaches including SNP genotyping, QTL analysis, identifying genes orthologous to Arabidopsis ferrome, yeast complementation assay and genetic transformation to avoid the limitation from a single approach. We revealed several candidate genes potentially associated …
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IDENTIFICAZIONE DI UNA NUOVA CAUSA GENETICA IN UN CASO FAMILIARE DI ENCEFALOMIOPATIA MITOCONDRIALE E DEFICIT DI CITOCROMO C OSSIDASI.
Using a linkage whole-genome SNP genotyping, we identified a missense mutation within the GFER gene as the cause of an infantile progressive mitochondrial myopathy. The human GFER (growth factor ERV1 homolog), also called ALR (augmenter of liver regeneration), belongs to the ERV1/ALR sulfhydryl …
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Simultaneous Mapping and Pyramiding of Fusarium Head Blight Resistance Loci in Wheat Breeding Populations
… linkage maps showed high concordance with the SNP consensus map for wheat. This suggests that linkage mapping in early generation plant breeding populations represents a reliable and efficient approach to support molecular breeding efforts. In the second study, we apply identical-by-descent …
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Identification of novel coding single nucleotide polymorphisms associated with acute respiratory distress syndrome
… a number of single nucleotide polymorphisms (SNP) which are potentially associated with ARDS. In this study, we validated three SNPs (rs78142040, rs9605146, and rs3848719) in an additional 117 ARDS patients using TaqMan SNP genotyping assays (Life Technologies) to substantiate their …
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Chronic kidney disease in HIV populations: prevalence, risk factors and role of transforming growth factor beta (TGF-߀1) polymorphisms
… ability of urinary TGF-β1 to diagnose early CKD. SNP genotyping of rs1800469, rs1800470, rs1800471, rs121918282 in TGF-β1, rs60910145 (APOL1), rs73885319 (APOL1), rs71785313 (APOL1) and rs743811 (HMOX1) was performed using predesigned TaqMan genotyping assays. Results: Using meta-analytic methods, …
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Estudio de la influencia de los polimorfismos genéticos en la respuesta a tratamiento con ranibizumab en la degeneración macular asociada a la edad.
… Chain Reaction, PCR) usando sondas KASPar SNP Genotyping System (LGC, Middlesex, UK). Resultados: Encontramos diferencias estadísticamente significativas entre los polimorfismos TGFBR1 (rs334353), COL8A1L/FILIP1L (rs13081855) y RAD51B (rs8017304) y la respuesta a ranibizumab. El número de …
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Determination of the prevalence and diversity of viral gastroenteritis infections and secretor status in the elderly population of the Tshwane region in South Africa
… rotavirus, sapovirus and human adenovirus. FUT2 genotyping was performed to acquire the secretor status for all the rotavirus- and norovirus-positive individuals. The real-time TaqMan® SNP Genotyping Assay was inconsistent in amplifying the SNP in the FUT2 gene from stool-extracted DNA of elderly …
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