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Single Nucleotide Polymorphisms-SNPs01:05

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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,...
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Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
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Apart from the measures of central tendency, distribution, outliers, and the changing characteristics of data with time, an important characteristic of any data set is its variation or spread. In some data sets, the data values are concentrated closely near the mean; in others, the data values are more widely spread out from the mean.
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Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
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Targeted Detection of Single-Nucleotide Variations: Progress and Promise.

Alireza Abi1, Afsaneh Safavi1

  • 1Department of Chemistry, Faculty of Sciences , Shiraz University , Shiraz 7194684795 , Iran.

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|March 8, 2019
PubMed
Summary

New technologies enable faster, cheaper detection of single-nucleotide variations (SNVs) linked to diseases. This supports precision medicine by allowing timely, targeted therapies based on genetic information.

Keywords:
assay developmentbiosensorgenotypingpoint mutationpoint-of-care testingprecision medicinesingle-nucleotide polymorphismsingle-nucleotide variationspecificity

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Area of Science:

  • Genomics
  • Molecular Biology
  • Biotechnology

Background:

  • Advancements in nucleic acid sequencing and genotyping have identified numerous single-nucleotide variations (SNVs) linked to disease.
  • Accurate detection of disease-specific SNVs is crucial for effective, timely therapeutic interventions.
  • The demand for precision medicine necessitates rapid and cost-efficient SNV analysis methods.

Purpose of the Study:

  • To review recent significant advancements in methodologies for targeted single-nucleotide variation analysis.
  • To highlight novel approaches for fast and cost-effective SNV detection.

Main Methods:

  • Review of recent scientific literature and technological developments in SNV detection.
  • Focus on methodologies enabling targeted analysis of specific SNVs.

Main Results:

  • Identification of emerging techniques for SNV analysis.
  • Emphasis on methods that improve speed and reduce cost.
  • Highlighting progress towards enabling precision medicine through genetic insights.

Conclusions:

  • Continued innovation in sequencing and genotyping technologies is rapidly advancing SNV detection capabilities.
  • These advancements are critical for the implementation of precision medicine.
  • Future research will likely focus on further optimizing speed, cost-effectiveness, and accessibility of SNV analysis.