Inversion genotyping from ONT long reads. (A) Schematic representation of candidate inversions analyzed in this work, with the inverted region shown as a red gradient flanked by two inverted repeats (IRs) in gray. Probe sequences located at both sides of each IR (labeled as A, B, C, and D) are indicated as colored rectangles and have different order in O1 and O2 orientations. (B) Example of HsInv0228 inversion genotyping results in a heterozygote sample, showing ONT individual reads as dark gray (O1) or light gray (O2) lines. The probe sequences are indicated with colored rectangles. Probe sequence order together with read number and proportion of reads supporting each orientation determines the inversion genotype.