A haplotype map of the human genome View Full Text


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Article Info

DATE

2005-10

AUTHORS

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

  • 1992-10. A second-generation linkage map of the human genome in NATURE
  • 2001-10. Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex in NATURE GENETICS
  • 2000-05. Gene Ontology: tool for the unification of biology in NATURE GENETICS
  • 2004-10-21. Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays in NATURE METHODS
  • 2005-10-23. Efficiency and power in genetic association studies in NATURE GENETICS
  • 2001-10. Haplotype tagging for the identification of common disease genes in NATURE GENETICS
  • 2002-06-10. A high-resolution recombination map of the human genome in NATURE GENETICS
  • 2005-08. Genetic interactions between polymorphisms that affect gene expression in yeast in NATURE
  • 2001-05. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease in NATURE
  • 2000-02. ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF in NATURE GENETICS
  • 2005-03-16. Disclosure of variation in NATURE
  • 1992-04. Levels of naturally occurring DNA polymorphism correlate with recombination rates in D. melanogaster in NATURE
  • 2004-05-01. Whole genome DNA copy number changes identified by high density oligonucleotide arrays in HUMAN GENOMICS
  • 2004-10-24. Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies in NATURE GENETICS
  • 1992-11. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland in NATURE GENETICS
  • 2002-01-14. Identification of a variant associated with adult-type hypolactasia in NATURE GENETICS
  • 2005-07-12. Mapping by admixture linkage disequilibrium: advances, limitations and guidelines in NATURE REVIEWS GENETICS
  • 1998-07. DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene in NATURE GENETICS
  • 2005-01-23. Admixture mapping for hypertension loci with genome-scan markers in NATURE GENETICS
  • 1998-11. A Pro12Ala substitution in PPARγ2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity in NATURE GENETICS
  • 2003-02-18. Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots in NATURE GENETICS
  • 2001-02-15. Comparison of human genetic and sequence-based physical maps in NATURE
  • 2004-08-01. Detection of large-scale variation in the human genome in NATURE GENETICS
  • 2004-03-07. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes in NATURE GENETICS
  • 1999-06. Prospects for whole-genome linkage disequilibrium mapping of common disease genes in NATURE GENETICS
  • 2001-05. Linkage disequilibrium in the human genome in NATURE
  • 2005-04. A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk in NATURE
  • 2005-06-28. Priorities and standards in pharmacogenetic research in NATURE GENETICS
  • 2003-04-30. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease in NATURE
  • 2000-09. The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes in NATURE GENETICS
  • 2001-10. High-resolution haplotype structure in the human genome in NATURE GENETICS
  • 2003-06-22. Advantage of rare HLA supertype in HIV disease progression in NATURE MEDICINE
  • 2002-10-09. Detecting recent positive selection in the human genome from haplotype structure in NATURE
  • 2001-05. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease in NATURE
  • 2004-06. Integrating ethics and science in the International HapMap Project in NATURE REVIEWS GENETICS
  • 2003-08. The human Y chromosome: an evolutionary marker comes of age in NATURE REVIEWS GENETICS
  • 2005-09. Initial sequence of the chimpanzee genome and comparison with the human genome in NATURE
  • 2005-01-16. A common inversion under selection in Europeans in NATURE GENETICS
  • 2004-06-06. Evidence for substantial fine-scale variation in recombination rates across the human genome in NATURE GENETICS
  • 2002-12. Initial sequencing and comparative analysis of the mouse genome in NATURE
  • 2002-07-10. A first-generation linkage disequilibrium map of human chromosome 22 in NATURE
  • 2002-12. Numerous potentially functional but non-genic conserved sequences on human chromosome 21 in NATURE
  • 2003-12. The International HapMap Project in NATURE
  • Identifiers

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    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

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    59 schema:description 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.
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