Single Nucleotide Resolution

Single nucleotide resolution is the ability to measure, identify, or distinguish genetic information at the level of individual DNA or RNA bases, providing finer detail than measurements averaged across a sequence region. It works by assigning an observable signal, such as a sequencing read or chemical modification pattern, to each nucleotide position and comparing that signal with a reference sequence. In genetics, this resolution enables precise detection of single-nucleotide variants, base modifications, and position-specific regulatory changes. These measurements support studies of mutation, gene regulation, genome organization, and disease-associated variation, while improving the accuracy of molecular diagnostics and functional genomic analyses.

Single Nucleotide Resolution - Related Videos

Research

JoVE Journal - Immunology and Infection
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Methods to Increase the Sensitivity of High Resolution Melting Single Nucleotide Polymorphism Genotyping in Malaria

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Cited by 10 •

2015

While high resolution melting analysis offers the ability to differentiate between single nucleotide polymorphisms in a heterogeneous population, mutant allele amplification bias can increase its ability to detect alleles present at relatively low percentages within a sample. This protocol describes improvements that improve the sensitivity of high resolution melting analysis.

Research

JoVE Journal - Biochemistry

Dual DNA Rulers to Study the Mechanism of Ribosome Translocation with Single-Nucleotide Resolution

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Cited by 1 •

2019

Dual DNA ruler assay is developed to determine the mRNA position during ribosome translocation, which relies on the dissociation forces of the formed DNA-mRNA duplexes. With single-nucleotide resolution and capability of reaching both ends of mRNA, it can provide mechanistic insights for ribosome translocation and probe other nucleic acid displacements.

Research

JoVE Journal - Biology
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iCLIP - Transcriptome-wide Mapping of Protein-RNA Interactions with Individual Nucleotide Resolution

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Cited by 203 •

2011

The spatial arrangement of RNA-binding proteins on a transcript is a key determinant of post-transcriptional regulation. Therefore, we developed individual-nucleotide resolution UV crosslinking and immunoprecipitation (iCLIP) that allows precise genome-wide mapping of the binding sites of an RNA-binding protein.

Education

JoVE Core - Molecular Biology

Single Nucleotide Polymorphisms-SNPs

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2021

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...

Chip-in-a-Tube-Based Digital PCR for Quantification of Single Nucleotide Variants

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2025

This video demonstrates the utility of digital PCR in a chip-in-a-tube format for the detection of single nucleotide variations in DNA samples. A single PCR reaction is partitioned into chambers that act as independent PCR reactions, and the detection of fluorescence signals from the amplified targets in the chambers is used to compute the frequency of the variant allele in the sample.

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