Figure 1.

Phasing: computationally inferring genotypes from haplotypes. Although DNA sequences consist of four bases, single nucleotide polymorphisms (SNPs) are biallelic. Therefore, the sequence variation can be expressed using binary symbols. The observed genotype sequences consist of conflated combinations of two true haplotype sequences. Programs that computationally infer haplotypes attempt to minimize switch errors.

Sridhar et al. BMC Bioinformatics 2007 8:472   doi:10.1186/1471-2105-8-472
Download authors' original image