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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

14.1K
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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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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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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Updated: Apr 21, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
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Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

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SNP genotyping using KASPar assays.

Scott M Smith1, Peter J Maughan

  • 1Department of Plant and Microbial Biology, North Carolina State University, 600 Laureate Way, Kannapolis, 28081, NC, smsmit30@ncsu.edu.

Methods in Molecular Biology (Clifton, N.J.)
|November 7, 2014
PubMed
Summary
This summary is machine-generated.

This study presents a scalable and cost-effective method for single nucleotide polymorphism (SNP) genotyping. The KASPar™ assay enables efficient SNP analysis using high-throughput platforms.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • Single nucleotide polymorphisms (SNPs) are key genetic markers.
  • Efficient SNP discovery and genotyping are crucial for genetic research.

Purpose of the Study:

  • To describe a scalable and cost-effective single nucleotide polymorphism (SNP) genotyping method.
  • To present an alternative to existing SNP discovery techniques.

Main Methods:

  • Utilized KBioscience's competitive allele-specific PCR amplification (KASPar™).
  • Employed endpoint fluorescence genotyping.
  • Integrated with FRET capable plate readers or Fluidigm dynamic array platforms for high-throughput analysis.

Main Results:

  • Demonstrated a scalable and cost-effective SNP genotyping approach.
  • Successfully applied KASPar™ technology for SNP analysis.

Conclusions:

  • The KASPar™ method offers an efficient and economical solution for SNP genotyping.
  • This method is suitable for high-throughput genetic analysis.