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Single-nucleotide polymorphism detection using nanomolar nucleotides and single-molecule fluorescence [PDF]
Analytical Biochemistry, 2004 We have exploited three methods for discriminating single-nucleotide polymorphisms (SNPs) by detecting the incorporation or otherwise of labeled dideoxy nucleotides at the end of a primer chain using single-molecule fluorescence detection methods. Good discrimination of incorporated vs free nucleotide may be obtained in a homogeneous assay (without ...
Charles R. Twist +4 more
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Light–Nucleotide versus Ion–Nucleotide Interactions for Single-Nucleotide Resolution
The Journal of Physical Chemistry B, 2021Several parallel reads of ionic currents through multiple CsgG nanopores provide information about ion-nucleotide interactions for sequencing single-stranded DNA (ss-DNA) using base-calling algorithms. However, the information in ion-nucleotide interactions seems insufficient for single-read nanopore DNA sequencing.
Mohsen Farshad, Jayendran C. Rasaiah
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Hypertension and single nucleotide polymorphisms
Current Hypertension Reports, 2000Hypertension is a common, complex disease phenotype that has been intensively studied to identify susceptibility loci in humans. Candidate genes continue to be uncovered via genetic analysis in model organisms through linkage analysis with families and/or sib-pairs and through association studies using sequence variants in genes that play a role in key
Deborah A. Nickerson, Mark J. Rieder
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Proportionality of single nucleotide causation
Studies in History and Philosophy of Science, 2022Assessing the proportionality of causal relationships help us pick out the most relevant causes of an effect. In this paper, I nuance and apply the concept of proportionality from the philosophy of causation debate to the mapping of associations between variations in single nucleotides in the DNA and complex phenotypic traits, such as cancer, bipolar ...
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Detection of Single Nucleotide Variations
1998Advances in molecular biology and genetics in recent years have made it possible to identify the molecular defects in many genetic disorders with simple Mendelian inheritance with the positional cloning approach (1). Crucial to the success of this approach is the initial localization of the disease locus by linkage analysis, that is, analyzing for co ...
Pui-Yan Kwok, Xiangning Chen
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Single-Nucleotide Polymorphism Mapping
2006Single-nucleotide polymorphism (SNP) mapping is the easiest and most reliable way to map genes in Caenorhabditis elegans. SNPs are extremely dense and usually have no associated phenotype, making them ideal markers for mapping. SNP mapping has three steps.
M. Wayne Davis, Marc Hammarlund
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Classifying single nucleotide polymorphisms in humans
Molecular Genetics and Genomics, 2021Single nucleotide polymorphisms (SNPs) are the most common form of genetic variation amongst the human population and are key to personalized medicine. New tests are presented to distinguish pathogenic/malign (i.e., likely to contribute to or cause a disease) from nonpathogenic/benign SNPs, regardless of whether they occur in coding (exon) or noncoding
Shima Azizzadeh-Roodpish +2 more
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Single-Nucleotide Polymorphisms
2006The identification of DNA variation or gene mutations, which contributes to or determines a disease, has been a major research focus, as it describes the underlying inherited disease components. With the human genome being sequenced, the reference sequence is now at hand, facilitating the systematic identification of DNA variation and its subsequent ...
Ulrich Broeckel, Martin J. Hessner
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Single Nucleotide Polymorphisms (SNPs)
2014Single nucleotide polymorphisms (SNPs) have been suggested as a useful tool for dissecting various human complex disorders, classically at a small scale and recently at large genome-wide levels. The advent of new technologies, including chip-based genotyping as well as high-throughput next generation sequencing, has opened new avenues for SNPs to be ...
Batra, Jyotsna +2 more
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