Figure 1.
A genotype for five SNPs (left) and two possible phasings of the genotype into pairs of haplotypes (right) demonstrating the inherent ambiguity of haplotype phasing. Each SNP has possible bases of “A” and “G”. “A” and “G” positions in the genotype represent homozygous genotypes at a particular SNP, and an “H” position represents a heterozygous genotype at a particular SNP. From only the observed data, it is impossible to determine which haplotype phasing is correct.
