Skip to main content

Table 1 Phase Accuracy. The genome-wide phase accuracy of IBDphase. Accuracy is measured using trio phase as the standard of true phase, using only SNPs where the phase can be unambiguously inferred from the trio (i.e., where at least one parent is homozygous). Global error is the rate at which the phase differs from trio phase (keeping only one haplotype assigned to one parent across the genome, but assuming the more favorable haplotype of two choices). Switch error rate is the frequency with which the phase of a heterozygous SNP differs from that of the previous heterozygous SNP with respect to trio phase. The third accuracy measure is the proportion of SNPs that belong to segments where there are no phase switches for at least 1 centimorgan. Some measures depend on SNP density, and we consider 416,176 SNPs across the autosome. The median global phase error of the pre-phased data is 48%, and the median phase switch rate and median proportion of SNPs in 1 cM+ runs is 1.08% and 95% respectively

From: Accurate genome-wide phasing from IBD data

Criteria

IBDphase median (%)

IBDphase mean (%)

Global phase error

2.09

4.93

Phase switch error rate

0.26

0.33

Proportion of SNPs in 1 cM+ runs

99.01

98.64