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Homozygosity and Linkage Disequilibrium
Author(s) -
Chiara Sabatti,
Neil Risch
Publication year - 2002
Publication title -
genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.792
H-Index - 246
eISSN - 1943-2631
pISSN - 0016-6731
DOI - 10.1093/genetics/160.4.1707
Subject(s) - linkage disequilibrium , disequilibrium , biology , loss of heterozygosity , genetics , haplotype , linkage (software) , runs of homozygosity , evolutionary biology , allele , genotype , gene , single nucleotide polymorphism , medicine , ophthalmology
We illustrate how homozygosity of haplotypes can be used to measure the level of disequilibrium between two or more markers. An excess of either homozygosity or heterozygosity signals a departure from the gametic phase equilibrium: We describe the specific form of dependence that is associated with high (low) homozygosity and derive various linkage disequilibrium measures. They feature a clear biological interpretation, can be used to construct tests, and are standardized to allow comparison across loci and populations. They are particularly advantageous to measure linkage disequilibrium between highly polymorphic markers.

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