FIGURE 2.

Physical phasing reveals the de novo variant arose on the paternal chromosome. (a) Shown is an extended window of the phased chromosomes. There is a phase‐informative variant (inheritance from paternal chromosome 1 [P1]) 4880 bp away from the de novo KCNC2 variant and that resides on the same physical chromosome as the de novo variant in both PB.100.p1 and PB.100.p2. (b) Phase by transmission is shown where PB.100.p1 and PB.100.p2 inherit the phase‐informative variant from PB.100.fa P1 chromosome. (c) The de novo variant is shown. Chromosome color is based on read‐backed phasing result. M1, maternal chromosome 1; M2, maternal chromosome 2; P1, paternal chromosome 1; P2, paternal chromosome 2