Journal
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 11
Volume 11, Issue -, Pages 45-64Publisher
ANNUAL REVIEWS
DOI: 10.1146/annurev-genom-082908-150031
Keywords
linkage disequilibrium; genetic linkage; hotspot; population recombination rate; recombination intensity
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Funding
- NHGRI NIH HHS [R01 HG003229, R01 HG003229-05, HG003229] Funding Source: Medline
- NIGMS NIH HHS [P50 GM065509, GM080221, R01 GM080221, GM065509] Funding Source: Medline
- NIMH NIH HHS [MH084685] Funding Source: Medline
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [R01HG003229] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [R01GM080221, P50GM065509] Funding Source: NIH RePORTER
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There has been considerable excitement over the ability to construct linkage maps based only on genome-wide genotype data for single nucleotide polymorphic sites (SNPs) in a population sample. These maps, which are derived from estimates of linkage disequilibrium (LD), rely on population genetics theory to relate the decay of LD to the local rate of recombination, but other population processes also come into play. Here we contrast these LD maps to the classically derived, pedigree-based human recombination maps. The LD maps have a level of resolution greatly exceeding that of the pedigree maps, and at this fine scale, sperm typing allows a means of validation. While at a gross level both the pedigree maps and the sperm typing methods generally agree with LD maps, there are significant local differences between them, and the fact that these maps measure different genetic features should be remembered when using them for other genetic inferences.
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