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

Bibliographic Collection: 
MOCA Reference, APE
Publication Type: Journal Article
Authors: Myers, Simon; Bottolo, Leonardo; Freeman, Colin; McVean, Gil; Donnelly, Peter
Year of Publication: 2005
Journal: Science
Volume: 310
Issue: 5746
Pagination: 321-4
Date Published: 10/2005
Publication Language: eng
ISSN: 1095-9203
Keywords: Animals, Base Sequence, Chromosome Mapping, Chromosomes, Human, Evolution, Molecular, Female, Genome, Human, Humans, Male, Models, Genetic, Polymorphism, Single Nucleotide, Recombination, Genetic

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.

DOI: 10.1126/science.1117196
Alternate Journal: Science
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