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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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

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Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.
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The International HapMap Project.

    Nature
    |December 20, 2003
    PubMed
    Summary

    The International HapMap Project maps human genome DNA sequence variation. This genetic map aids in discovering disease-related variants and developing new diagnostics and therapies.

    Area of Science:

    • Genomics
    • Human Genetics
    • Population Genetics

    Background:

    • Understanding human genetic variation is crucial for biomedical research.
    • Previous efforts have identified some genetic variations, but a comprehensive map was lacking.

    Purpose of the Study:

    • To create a detailed map of common DNA sequence variation across the human genome.
    • To make comprehensive human genetic variation data publicly accessible.

    Main Methods:

    • Genotyping over one million sequence variants in DNA from diverse global populations (Africa, Asia, Europe).
    • Analyzing variant frequencies and patterns of genetic association (linkage disequilibrium).

    Main Results:

    • Established a public database of common human genetic variation.
    Keywords:
    Biomedical and Behavioral ResearchEmpirical ApproachGenetics and Reproduction

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    Related Experiment Videos

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  • Identified millions of single nucleotide polymorphisms (SNPs) and other variants.

    • Conclusions:

    • The HapMap provides a foundational resource for genetic association studies.
    • Facilitates the discovery of genetic factors contributing to common diseases.
    • Supports the development of targeted diagnostics and therapeutics.