High-resolution haplotype structure in the human genome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2001-10

AUTHORS

Mark J. Daly, John D. Rioux, Stephen F. Schaffner, Thomas J. Hudson, Eric S. Lander

ABSTRACT

Linkage disequilibrium (LD) analysis is traditionally based on individual genetic markers and often yields an erratic, non-monotonic picture, because the power to detect allelic associations depends on specific properties of each marker, such as frequency and population history. Ideally, LD analysis should be based directly on the underlying haplotype structure of the human genome, but this structure has remained poorly understood. Here we report a high-resolution analysis of the haplotype structure across 500 kilobases on chromosome 5q31 using 103 single-nucleotide polymorphisms (SNPs) in a European-derived population. The results show a picture of discrete haplotype blocks (of tens to hundreds of kilobases), each with limited diversity punctuated by apparent sites of recombination. In addition, we develop an analytical model for LD mapping based on such haplotype blocks. If our observed structure is general (and published data suggest that it may be), it offers a coherent framework for creating a haplotype map of the human genome. More... »

PAGES

229-232

Journal

TITLE

Nature Genetics

ISSUE

2

VOLUME

29

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng1001-229

    DOI

    http://dx.doi.org/10.1038/ng1001-229

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1026787741

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/11586305


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