Figure 8.
Detection of uniparental disomy (UPD). Variant allele frequencies (VAFs) of each variant type in the offspring, based on the parent of origin and parental genotype combinations (GroupA and GroupB), are shown with the total depth plot on the genomic coordinate. Whole-chromosome level UPD was identified with TrioMix, revealing a paternal isodisomy pattern. The gray dashed line on the depth plot represents the mean autosomal depth. The black dashed lines on the VAF plots represent VAF = 0.5.
