Whole-Genome Patterns of Common DNA Variation in Three Human Populations

  • David A. Hinds
    Perlegen Sciences Inc., 2021 Stierlin Court, Mountain View, CA 94043, USA.
  • Laura L. Stuve
    Perlegen Sciences Inc., 2021 Stierlin Court, Mountain View, CA 94043, USA.
  • Geoffrey B. Nilsen
    Perlegen Sciences Inc., 2021 Stierlin Court, Mountain View, CA 94043, USA.
  • Eran Halperin
    Perlegen Sciences Inc., 2021 Stierlin Court, Mountain View, CA 94043, USA.
  • Eleazar Eskin
    Perlegen Sciences Inc., 2021 Stierlin Court, Mountain View, CA 94043, USA.
  • Dennis G. Ballinger
    Perlegen Sciences Inc., 2021 Stierlin Court, Mountain View, CA 94043, USA.
  • Kelly A. Frazer
    Perlegen Sciences Inc., 2021 Stierlin Court, Mountain View, CA 94043, USA.
  • David R. Cox
    Perlegen Sciences Inc., 2021 Stierlin Court, Mountain View, CA 94043, USA.

説明

<jats:p>Individual differences in DNA sequence are the genetic basis of human variability. We have characterized whole-genome patterns of common human DNA variation by genotyping 1,586,383 single-nucleotide polymorphisms (SNPs) in 71 Americans of European, African, and Asian ancestry. Our results indicate that these SNPs capture most common genetic variation as a result of linkage disequilibrium, the correlation among common SNP alleles. We observe a strong correlation between extended regions of linkage disequilibrium and functional genomic elements. Our data provide a tool for exploring many questions that remain regarding the causal role of common human DNA variation in complex human traits and for investigating the nature of genetic variation within and between human populations.</jats:p>

収録刊行物

  • Science

    Science 307 (5712), 1072-1079, 2005-02-18

    American Association for the Advancement of Science (AAAS)

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