Fig. 4

Examples of SVs identified from the trio. a An insertion identified on chromosome 6, visualized by OMView [51] using the anchor view with the nicking site immediately before the insertion as the anchor. The red horizontal bars show the reference, with the nicking sites marked as black vertical lines. Each yellow horizontal bar represents an optical map, with the two aligned nicking site labels defining the SVs in blue, other aligned labels in pink, and unaligned labels in black. For each individual, optical maps are arranged into different sections based on the allele that they support. The father has a heterozygous insertion of around 14.6 kbp (insertion type I) and the mother has a heterozygous insertion of around 22.7 kbp (insertion yype II). The daughter inherited both insertions from her parents. b An inversion identified on chromosome X, visualized using the alignment view of OMView. For each individual, the top horizontal bar shows the reference and the bottom horizontal bar shows a representative optical map. Black solid and dashed lines linking the reference and the optical map, respectively, represent aligned nicking sites and nicking sites that should probably be aligned but were missed by the alignment pipeline