4.8 Article

A fine-scale map of recombination rates and hotspots across the human genome

Journal

SCIENCE
Volume 310, Issue 5746, Pages 321-324

Publisher

AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1117196

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Funding

  1. NHGRI NIH HHS [U54 HG2750] Funding Source: Medline
  2. Wellcome Trust Funding Source: Medline

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Genetic maps, which document the way in which recombination rates vary over a genome, are an essential tool for many genetic analyses. We present a high-resolution genetic map of the human genome, based on statistical analyses of genetic variation data, and identify more than 25,000 recombination hotspots, together with motifs and sequence contexts that play a role in hotspot activity. Differences between the behavior of recombination rates over large (megabase) and small (kilobase) scales lead us to suggest a two-stage model for recombination in which hotspots are stochastic features, within a framework in which large-scale rates are constrained.

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