Figure 4

An inversion detected with optical mapping resolved with our cas9-assisted targeted nanopore sequencing approach. (A) Shows a black bar at the location where the inversion was detected on chromosome 12 contig by optical mapping. The blue and red arrows represent the gRNA pair designed to target this region. This gRNA pair is expected to generate a fragment represented by the yellow-purple bars. The yellow bar represents the part of fragment flanking the inversion while the purple represents the part of fragment inside the inversion. (B) Shows a set of sequenced reads aligning to this region. Coverage was 6×. They had distinct aligning and non-aligning segments as expected represented by the purple and yellow bars on the IGV reference respectively. The reads had a primarily alignment to hg38 on the right side of the inversion as expected in 3′ to 5′ orientation starting from the one designed gRNA cut site. The same reads showed a secondary alignment on the left side of inversion with an inverted orientation as expected also from a designed cut site.