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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.
GWAS does not require the identification of the target gene involved in...
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,...
Comparing Copy Number Variations and SNPs02:26

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%...

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Related Experiment Video

Updated: Jul 5, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

HapMap tagSNP transferability in multiple populations: general guidelines.

Jinchuan Xing1, David J Witherspoon, W Scott Watkins

  • 1Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA.

Genomics
|May 17, 2008
PubMed
Summary
This summary is machine-generated.

Tag single nucleotide polymorphisms (tagSNPs) efficiently capture genetic variants. HapMap tagSNPs show high transferability across continental groups, with specific recommendations for Indian and Pygmy populations.

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Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
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Last Updated: Jul 5, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

Area of Science:

  • Genetics
  • Genomics
  • Population Genetics

Background:

  • Linkage disequilibrium (LD) is crucial for localizing disease genes.
  • Tag single nucleotide polymorphisms (tagSNPs) are used to represent multiple SNP variants within a genomic region.

Purpose of the Study:

  • To examine LD patterns and HapMap tagSNP transferability in diverse populations.
  • To evaluate tagSNP performance in geographically distinct and genetically isolated groups.

Main Methods:

  • Analysis of LD patterns in over 300 individuals.
  • Assessment of HapMap tagSNP transferability using South Indian and Mbuti Pygmy samples.
  • Review of over 25 studies on tagSNP transferability.

Main Results:

  • HapMap tagSNPs (r(2) >= 0.8) capture over 85% of SNPs within the same continental group.
  • Combined HapMap CEU and CHB+JPT tagSNPs are optimal for the Indian sample.
  • HapMap YRI provide sufficient tagSNP selection for the Pygmy sample.

Conclusions:

  • HapMap tagSNPs demonstrate significant transferability across populations.
  • Specific HapMap panels are recommended for tagSNP selection in diverse ethnic groups.
  • A general guideline for tagSNP selection from HapMap populations is proposed.