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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,...
Dihybrid Crosses01:18

Dihybrid Crosses

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Related Experiment Video

Updated: Jun 15, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Introduction to linkage disequilibrium, the HapMap, and imputation.

Benjamin M Neale

    Cold Spring Harbor Protocols
    |March 3, 2010
    PubMed
    Summary

    Linkage disequilibrium (LD) describes correlations in genetic variation between DNA loci. Understanding LD is crucial for population genetics, association studies, and genome-wide imputation efforts.

    Area of Science:

    • Genetics
    • Population Genetics
    • Genomics

    Background:

    • Genetic variations at different loci in the human genome are often correlated.
    • This correlation, known as linkage disequilibrium (LD), means genotype information at one locus can infer information at another.

    Purpose of the Study:

    • To discuss the significance of linkage disequilibrium in genetic research.
    • To highlight the role of LD in population genetics and association studies.
    • To introduce the International HapMap Project and its contribution to mapping LD and imputation.

    Main Methods:

    • Review of the concept and implications of linkage disequilibrium.
    • Discussion of LD's role in population genetics and association studies.
    • Introduction to the International HapMap Project as a key initiative for LD mapping.

    Related Experiment Videos

    Last Updated: Jun 15, 2026

    Infinium Assay for Large-scale SNP Genotyping Applications
    13:33

    Infinium Assay for Large-scale SNP Genotyping Applications

    Published on: November 19, 2013

    Main Results:

    • Linkage disequilibrium is a fundamental concept in human genetics.
    • LD influences the design and interpretation of genetic association studies.
    • The International HapMap Project has been instrumental in characterizing genome-wide LD patterns.

    Conclusions:

    • Understanding linkage disequilibrium is essential for interpreting genetic variation.
    • LD mapping provides a framework for genetic association studies and imputation.
    • The International HapMap Project has significantly advanced the study of human genetic variation and its applications.