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Single Nucleotide Polymorphisms-SNPs

Single Nucleotide Polymorphisms-SNPs

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,...

Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

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%...

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

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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Related Experiment Video

Updated: Jun 24, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

A new method for SNP discovery.

Jian-Yong Xu¹, Gen-Bo Xu, Song-Lin Chen

¹Key Lab for Sustainable Utilization of Marine Fisheries Resources, Ministry of Agriculture, Yellow Sea Fisheries Research Institute, Chinese Academy of Fishery Sciences, Qingdao, China.

|March 26, 2009

Summary

This summary is machine-generated.

Researchers developed a new, cost-effective method to isolate single nucleotide polymorphisms (SNPs) in genomes. This technique efficiently identifies genetic markers in non-model organisms, aiding in trait and disease gene discovery.

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Area of Science:

Genomics
Molecular Biology
Marine Biology

Background:

Single nucleotide polymorphisms (SNPs) are key genetic variations driving phenotypic diversity and serving as markers.
Current SNP isolation methods are expensive and technically challenging, limiting their use in non-model organisms.
The half-smooth tongue sole (Cynoglossus semilaevis) is a commercially important marine fish in China.

Purpose of the Study:

To develop a rapid, effective, and cost-efficient method for random SNP isolation across genomes.
To overcome limitations of existing SNP isolation techniques, particularly for non-model species.
To validate the new method's efficiency in identifying SNPs in the half-smooth tongue sole.

Main Methods:

Development of a novel DNA isolation technique to efficiently capture SNP-containing fragments.
Random isolation of DNA fragments from the genome of Cynoglossus semilaevis.
Analysis of isolated fragments to identify and confirm the presence of SNPs.

Main Results:

The new method successfully isolated DNA fragments containing SNPs from the half-smooth tongue sole genome.
Nine out of ten analyzed DNA fragments were confirmed to contain SNPs.
The method demonstrated high efficiency and cost-effectiveness in SNP discovery.

Conclusions:

The developed method provides a rapid, cost-effective, and broadly applicable approach for SNP isolation.
This technique facilitates genetic marker discovery in non-model organisms, including commercially important fish species.
The findings support the use of this method for identifying genes associated with phenotypic traits and diseases.