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

Publication Date

14/10/2005

Volume

310

Pages

321 - 324

Keywords

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