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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

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.
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Single Nucleotide Polymorphisms-SNPs01:05

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,...
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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.
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SNPxGE(2): a database for human SNP-coexpression associations.

Yupeng Wang1, Sandeep J Joseph, Xinyu Liu

  • 1Institute of Bioinformatics, University of Georgia, Athens, GA 30602, USA. wyp1125@uga.edu

Bioinformatics (Oxford, England)
|December 3, 2011
PubMed
Summary

The SNPxGE(2) database provides computationally predicted human SNP-coexpression associations. This resource aids in understanding how single nucleotide polymorphisms (SNPs) influence gene expression dynamics in populations.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Population Genetics

Background:

  • Gene coexpression relationships are dynamic and conditional.
  • Single nucleotide polymorphisms (SNPs) are known to impact gene expression variations.

Purpose of the Study:

  • To computationally predict and database human SNP-coexpression associations.
  • To provide a resource for exploring the link between genetic variation and gene expression.

Main Methods:

  • Utilized a large-scale association study with HapMap phase I data (269 individuals, 4 populations).
  • Assessed SNP-coexpression associations using gap/substitution models for computational efficiency.
  • Analyzed 556,873 SNPs and 15,000 gene expression profiles.

Main Results:

  • Identified 44,769 SNP-coexpression associations in single populations and 50,792 in pooled populations at a 0.1 false discovery rate (FDR).
  • The SNPxGE(2) database stores these associations, linking SNP genotypes to differential gene coexpression.
  • Detailed information pages are available for each reported association.

Conclusions:

  • The SNPxGE(2) database offers a valuable resource for researchers studying genotype-phenotype relationships.
  • Facilitates the investigation of how genetic variations influence gene expression networks.
  • Enables querying associations by gene symbol or reference SNP ID.