Haplotyping

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Figure 3.1 illustrates the concept of haplotypes. The most accurate methods for determining haplotypes are experimental ones involving laborious and expensive laboratory analysis [44—46]. Alternatively, accuracy can sometimes be achieved by genotyping additional family members [47]. In pharmacogenomic studies where... 

Fig. 3.1 Haplotypes are combinations of SNPs inherited together on a chromosome.

Clark AG, Weiss KM, Nickerson DA, Taylor SL, Buchanan A, Stengard J et al. Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. Am J Hum Genet 1998 63 595— 612. 

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Fallin D, Schork NJ. Accuracy of haplotype frequency estimation for biallelic loci via the expectation-maximization algorithm for unphased diploid genotype data. Am J Hum Genet 2000 67 947-959. 

Many statistical methods have been developed for association studies [52, 53] that mostly consist of testing each polymorphism separately with the disease. It has been shown that the power of such methods decreases rapidly when the markers are in low or even moderate LD with the risk-conferring polymorphism [54]. One way to overcome this defect is to use haplotype-based tests [47, 55, 56] that combine different alleles of different markers. Haplotypes are likely to capture... 

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