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Retrieving HapMap Data via Bulk Download.

Albert Vernon Smith

    CSH Protocols
    |March 2, 2011
    PubMed
    Summary
    This summary is machine-generated.

    The International Haplotype Map Project created a comprehensive human genome map detailing genetic variations. This resource accelerates disease gene discovery and is publicly accessible for research.

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    Area of Science:

    • Genomics
    • Human Genetics
    • Bioinformatics

    Background:

    • The International Haplotype Map Project aimed to map common human genetic variations.
    • Understanding these variations is crucial for identifying genes linked to diseases.
    • Previous efforts laid the groundwork for large-scale genotyping.

    Purpose of the Study:

    • To develop a comprehensive haplotype map of the human genome.
    • To provide a resource for accelerating the discovery of genetic causes of human disease.
    • To detail common patterns of genetic variation across populations.

    Main Methods:

    • Genotyping of approximately 3.9 million single-nucleotide polymorphisms (SNPs).
    • Analysis of data from 270 individuals across four worldwide populations.

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  • Data compilation and preparation for public release.
  • Main Results:

    • Creation of a detailed haplotype map of the human genome.
    • Identification of millions of distinct single-nucleotide polymorphisms (SNPs).
    • Data made available for unrestricted public use via the HapMap Web site.

    Conclusions:

    • The HapMap data significantly advances the search for genetic disease causes.
    • The publicly accessible dataset facilitates broad scientific research.
    • Bulk download protocols are described for accessing the complete dataset.