Here's an example from the paper: a complex rearrangement shown with svtopo (top), IGV (middle), and Ribbon (bottom):

This example might look at first glance like a bad representation of a translocation, but the SVA annotation is a giveaway - reads from chr12 and chr19 aligned to a random SVA retrotransposon rather than a real connection between three chromosomes.

We looked at SVTopo images for 7 unrelated samples (HG002 and 6 from the platinum pedigrees cohort: 10.1101/2024.10.02.616333) and observed 142 unique complex SVs that we put in 11 categories (fig2).

This example is hard to understand from e.g. IGV/Ribbon (see Fig1) but pretty simple in SVTopo: 4 blocks deleted (B,D,F,H), 2 inverted (E,G), 1 re-ordered (C)

#ASHG2024 was a blast. I had great discussions with friends and #pacbio collaborators, presented a poster on my new tool SVTopo, welcomed #PacBioVega to the world, and realized than I'm a bigger fan of One Republic than I knew before. Excited for next time!