Gametic phase disequilibrium is the nonrandom association of alleles within gametes. Linkage disequilibrium (LD) describes the special case of deviation from independence between alleles at two linked genetic loci. Estimation of allelic LD requires knowledge of haplotypes. Genotype-based LD measures dispense with the haplotype estimation step and avoid bias in LD estimation. In this chapter, the most important measures for allelic and genotypic LD are introduced. The use of software packages for LD estimation is illustrated.
Keywords: Allelic linkage disequilibrium; Coefficient of determination; Composite linkage disequilibrium; Gametic phase disequilibrium; Genotypic linkage disequilibrium; Haplotype; Hardy–Weinberg equilibrium; LDheatmap; Lewontin’s D′; Linkage disequilibrium; PLINK; snpStats.