Figure 2.

Power of four. Inheritance states illustrated for a single chromosome in six scenarios representing restrictions of the dataset to the exome (for two siblings only or for the full family) or to subsets of the family (parents and one child, two siblings, siblings and one parent), compared to inheritance state consistency analysis (ISCA) with full data from all four family members. The most supported state for each bin is shown as a color; the height of each histogram bar is proportional to the number of informative markers supporting that state. The father has two regions of homozygosity (thin red lines, bottom panel) on the short arm of the chromosome, where it is not possible to distinguish the haploidentical maternal from identical states (Fig. S2A, panel b). These regions are undetected when the mother's genotypes are missing, because all markers positions in the region are uninformative (second to bottom panel). A pedigree of two parents and one child has only one inheritance state, and so provides no information on recombination. Red, identical; blue, nonidentical; green, haploidentical maternal; yellow, haploidentical paternal. Chromosome structure is annotated as in Fig. 1.