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

Science (New York, N.Y.) 2005 Oct 14; 310(5746):321-4

Link to PubMed abstract

Myers S S, Bottolo L L, Freeman C C, McVean G G, Donnelly P P

Department of Statistics, University of Oxford, 1 South Parks Road, Oxford OX1 3TG, UK.

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.