Haplotype determination

The location of variants and frequencies are also represented in tables that can be downloaded in Microsoft Excel and tab-delimited formats for use in further statistical analyses. Each variant is linked to detailed methods describing the genotyping assay performed. The frequencies of each variant can be displayed according to race or ethnicity, the user can then drill down further to obtain the list of individual subjects who were genotyped at this locus, their characteristics and genotypes at other loci. This information can also be downloaded as an Excel or tab-delimited spreadsheet or exported to run the Phase haplotype determination algorithm (15). 

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... 

Specific mutations have been associated with specific haplotypes, the latter determined by analysis of restriction fragment length polymorphisms. This approach has been utilized for prenatal diagnosis. The study of haplotypes also has revealed that the majority (=75%) of northern European patients are compound PKU heterozygotes. 

---