A haplotype map of the human genome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2005-10

ABSTRACT

Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in the human genome: more than one million single nucleotide polymorphisms (SNPs) for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially all information about common DNA variation has been extracted. These data document the generality of recombination hotspots, a block-like structure of linkage disequilibrium and low haplotype diversity, leading to substantial correlations of SNPs with many of their neighbours. We show how the HapMap resource can guide the design and analysis of genetic association studies, shed light on structural variation and recombination, and identify loci that may have been subject to natural selection during human evolution. More... »

PAGES

1299-1320

References to SciGraph publications

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  • Journal

    TITLE

    Nature

    ISSUE

    7063

    VOLUME

    437

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nature04226

    DOI

    http://dx.doi.org/10.1038/nature04226

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1017293702

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/16255080


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