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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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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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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 ...
Twist, Charles R. +3 more
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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 ...
Twist, Charles R. +3 more
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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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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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single nucleotide polymorphism
2009(SNP, pronounced “snips”) variation at just a single base of a four-bases (syn. nucleotides) long codon; it is assumed that SNPs predispose individuals to develop certain diseases but also to respond or not to certain drugs; → see also genom, pharmacogenetics.
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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 ...
P Y, Kwok, X, Chen
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