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Showing 1 to 20 of 403 for “"single nucleotide polymorphisms"”.
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Analyse von Single Nucleotide Polymorphisms an Glas-Oberflächen
Ziel der vorliegenden Arbeit war die Entwicklung einer SNP-Genotypisierungsmethode mit auf Mikroarrays immobilisierten PCR-Produkten. Für die Analyse wurde ein faseroptischer Affinitätssensor bzw. ein Durchfluss-Biochip-Scanner mit integrierter Fluoreszenzdetektion verwendet. An den immobilisierten …
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Multiplexed genotyping of single nucleotide polymorphisms using microarray technology
… the unique feature of TdT to polymerize oligonucleotides in a template-independent manner, another novel and versatile tool (TAPE) was established and it demonstrated great potential in genomic analyses, mainly genotyping and gene expression. Finally, an unusual property of TdT was discovered …
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Single Nucleotide Polymorphisms Linked to Essential Hypertension in Kasigau, Kenya
… is especially important. In this study, three single nucleotide polymorphisms (SNPs) known to be linked to an increase in susceptibility to EH were quantified from a cohort of Kenyans living in the Kasigau region. The SNPs are located in three genes that are part of the renin angiotensin …
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Single Nucleotide Polymorphisms in the Folypoly-gamma-glutamate synthetase Gene
… for the synthesis of purine and thymidine nucleotides, which are necessary for cell growth and proliferation. As a result, the enzymes that participate in the metabolism of folic acid have been good targets for cancer chemotherapy. Folylpoly-γ-glutamate synthetase (FPGS) is an enzyme in the …
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JAMALAH--a system for the detection of single nucleotide polymorphisms
Thesis (M. Eng.)--Massachusetts Institute of Technology, Dept. of Electrical Engineering and Computer Science, 1996.
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Ranking single nucleotide polymorphisms with support vector regression in continuous phenotypes
… (SVM) have been used to improve the ranking of single nucleotide polymorphisms (SNPs) over traditional chi-square tests in disease case studies [2]. In this investigation, ranking SNPs with support vector regression (SVR) was compared to the Wald test in predicting continuous phenotypes. …
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Application of single nucleotide polymorphisms (SNPs) to forensic casework in Malaysia
… advances in the identification and analysis of single nucleotide polymorphisms (SNPs) have demonstrated the advantage of these markers over short tandem repeats (STRs) in that they only require small amplicons. However, before applying to casework, it is important to develop allele frequency …
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Identification of novel coding single nucleotide polymorphisms associated with acute respiratory distress syndrome
… we have tentatively identified 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) …
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The Use Of Pyrosequencing For The Analysis Of Y Chromosome Single Nucleotide Polymorphisms
… dedicated to Short Tandem Repeat analysis and Single Nucleotide Polymorphism (SNP) discovery. This study examined the ability of two different SNP analysis methods to determine if they could be utilized in forensic applications and ultimately be developed into an established system for Y …
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Effect of Gender on the Association of Single-Nucleotide Polymorphisms with Bipolar Disorder
… using PLINK software and the association of single-nucleotide polymorphisms was evaluated separately for all cases, for female subjects alone, and for male subjects alone. The results obtained for male subjects alone reached higher levels of statistical significance than when both genders …
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The effect of single nucleotide polymorphisms and mutations on congenital thrombotic thrombocytopenic purpura phenotype
… aim of this study was to analyse the effect of single nucleotide polymorphisms (SNPs), in conjunction with ADAMTS13 mutations, which have been identified in a cohort of TTP patients with varied clinical phenotype. Twenty mutant expression plasmids containing an ADAMTS13 mutation and/or SNP have …
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Detection of Single Nucleotide Polymorphisms In Csmd1 Gene of Colon and Breast Cancer Patients
… tumor development or patient outcome, we used nucleotide sequencing to identify single nucleotide polymorphisms in the CSMD1 gene of either tumor or matched normal tissues of 80 unrelated patients (30 colon cancer, 50 breast cancers). More than 92% of the 165 SNPs detected were present in the …
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Biological and Functional Consequences of Single Nucleotide Polymorphisms of the O6-Methylguanine-DNA-Methyltransferase Gene
Single nucleotide polymorphisms (SNPs) in DNA repair genes could alter the transcriptional levels, structure and function of DNA repair proteins and alter DNA repair proficiency. Consequently, these SNPs could significantly influence the level of genetic damage, which is an early critical factor in …
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Prevalence and frequency spectra of single nucleotide polymorphisms at exon-intron junctions of human genes
… individuals is often associated with genetic polymorphisms that determine the way in which genes are spliced. Hence, identification of genetic polymorphisms that might affect the way in which pre-mRNAs are spliced is an area of great interest.
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A Quantitative Exploration of Causes of False Positive Single Nucleotide Polymorphisms in Next-Generation Sequencing Data
Single Nucleotide Polymorphisms (SNPs) are widely used molecular markers, and their use has increased massively since the inception of Next-Generation Sequencing (NGS) technologies, which allow detection of large numbers of SNPs at low cost. However, both NGS data and their analysis are …
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Impact of CYP2C8 single nucleotide polymorphisms on in-vitro metabolism of imatinib to N-desmethyl imatinib
… and functional effects of the major CYP2C8 polymorphisms CYP2C8*3 and CYP2C8*4 on N-desmethyl imatinib formation are unknown. It was hypothesised that CYP2C8*3 and CYP2C8*4 genetic polymorphisms will decrease imatinib metabolism to N-desmethyl imatinib in HLM. Therefore the aim of this study …
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Effects of single nucleotide polymorphisms in leptin and pro-opiomelanocortin on peripheral eucocyte counts in beef cattle
Single nucleotide polymorphisms (SNP) in leptin (LEP) and pro-opiomelanocortin (POMC) have been associated with beef carcass quality and yield respectively. Both hormones also play a role in immune performance. Since both of these genes are pleiotrophic, it was important to determine whether …
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The effect of single nucleotide polymorphisms and metabolic substrates on the cellular distribution of mammalian BK channels.
… inter-individual differences caused in part by single-nucleotide polymorphisms (SNPs), which poses a challenge for the effective treatment of disease. Bioinformatics resources can help to store and analyse gene and protein information to address this challenge, however these resources have …
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The Molecular Mechanisms of Estrogen Receptor α on Two Single Nucleotide Polymorphisms to Regulate WNT Signaling in Osteoblasts
… association studies have predicted that the single nucleotide polymorphisms (SNPs) rs2887571 and rs9921222 associate with low bone mass, but the mechanism of these SNPs has remained unknown. Analysis of osteoblasts from 112 different joint replacement patients reveals that the genotype of …
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