SmartPhase: Accurate and fast phasing of heterozygous variant pairs for genetic diagnosis of rare diseases
Fig 2
Boxplots showing the distribution of relative amounts of pairs labeled as cis, trans, and innocuous (only for trio phasing) as well as the percentages of pairs that are cleared, confidently cleared after removing low quality phasing predictions, and pairs that can be excluded as being non-pathogenic.
The plots show results for SmartPhase using only read information for 800 singleton patients (a), using both trio and read phasing for 121 trio patients (b) and the results for the same individuals using physical phasing information provided by the HaplotypeCaller of GATK (c) & (d).