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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: Mar 23, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Published on: June 23, 2012

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A flexible tool to plot a genomic map for single nucleotide polymorphisms.

Fuquan Zhang1

  • 1Wuxi Mental Health Center, Nanjing Medical University, 156 Qianrong Road, Wuxi, Jiangsu Province 214151 China.

Source Code for Biology and Medicine
|April 5, 2016
PubMed
Summary
This summary is machine-generated.

The updated mapsnp R package now effectively visualizes single-nucleotide polymorphisms (SNPs) genomic maps. This flexible software aids researchers in exploring SNP locations and associated transcripts within genomic regions.

Keywords:
MapsnpR packageSNP map

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Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • Genetic association studies commonly utilize single-nucleotide polymorphisms (SNPs).
  • Existing tools for programming-based visualization of candidate SNP genomic maps are limited.
  • The previous version of the mapsnp R package (v0.1) is incompatible with the latest Gviz package.

Purpose of the Study:

  • To update the mapsnp R package for compatibility with current software environments.
  • To enhance the functionality of mapsnp for improved SNP genomic map visualization.

Main Methods:

  • Updating the mapsnp R package to align with the latest package dependencies.
  • Incorporating additional parameters to allow for fine-tuning of plotting outputs.

Main Results:

  • The mapsnp package has been successfully updated to function within the current R package ecosystem.
  • Enhanced functionality includes new parameters for detailed control over genomic map visualizations.

Conclusions:

  • The mapsnp package provides a flexible and updated solution for visualizing SNP genomic maps.
  • The software effectively displays relative chromosome locations and associated transcripts within specified genomic regions.