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.

Original publication

DOI

10.1126/science.1117196

Type

Journal article

Journal

Science (New York, N.Y.)

Publication Date

10/2005

Volume

310

Pages

321 - 324

Addresses

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

Keywords

Chromosomes, Human, Animals, Humans, Chromosome Mapping, Evolution, Molecular, Recombination, Genetic, Base Sequence, Polymorphism, Single Nucleotide, Genome, Human, Models, Genetic, Female, Male