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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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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Comparing Copy Number Variations and SNPs02:26

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Related Experiment Video

Updated: Jan 12, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Rapid on-site SNP discrimination across diverse mutational contexts.

Jeongmin Lee1, Doeon Sung1, Chang Ha Woo2

  • 1Department of Chemical Engineering, Pohang University of Science and Technology (POSTECH), Pohang, 37673, Republic of Korea.

Biosensors & Bioelectronics
|November 2, 2025
PubMed
Summary

This study introduces a rapid diagnostic tool for identifying single-nucleotide polymorphism (SNP) mutations in DNA. The technology enables quick, field-deployable SNP detection crucial for infectious disease management and treatment selection.

Keywords:
Allele-specific ligationLateral flow stripLigase-based mutation discriminationMolecular diagnosticsSingle nucleotide polymorphism (SNP)

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Area of Science:

  • Molecular Biology
  • Genetics
  • Biotechnology

Background:

  • Rapid identification of single-nucleotide polymorphism (SNP) mutations is essential for controlling infectious diseases and guiding treatment decisions.
  • Existing diagnostic tools often require specialized equipment and time-consuming processes, limiting field applicability.

Purpose of the Study:

  • To develop a novel, rapid, and field-deployable diagnostic technology for discriminating SNP-level mutations in double-stranded DNA (dsDNA).
  • To assess the performance and robustness of this technology, including its ability to handle peripheral mutations.

Main Methods:

  • A probe ligation-based assay was designed, where probes contain promoter and reporter sequences.
  • Ligation triggers the generation of transcripts, enabling SNP detection.
  • Results are visualized using lateral flow assay (LFA) strips, requiring no specialized equipment.

Main Results:

  • The assay successfully discriminates SNP-level mutations within 20 minutes, even with pre-amplification.
  • The technology demonstrated minimal influence from surrounding mismatches, allowing accurate mutation detection in complex sequences.
  • Performance was validated using clinical samples of SARS-CoV-2 variants, confirming its effectiveness and mismatch endurance.

Conclusions:

  • This ligation-based SNP detection technology offers a rapid, simple, and field-deployable solution for genetic analysis.
  • Its straightforward probe design and LFA strip visualization make it accessible for diverse applications, including infectious disease diagnostics.
  • The validated performance with clinical samples highlights its potential for real-world use in identifying genetic variations like those in viral variants.