Fig. 4. Structural variants validated by PacBio HiFi reads.

PacBio reads supporting CYP2D6-CYP2D7 hybrid *36 and *68, confirming SVs called in NA24631 and NA12878 (third row, Fig. 3). PacBio reads were realigned against modified sequence contigs representing the hybrids and plotted using sv-viz2 [42]. The black vertical lines mark the boundaries of the duplicated sequences, represented by the gray region. The red and blue regions represent flanking sequences.