Despite the interest in characterizing genomic variation, the presence of large repeats at the
breakpoints hinders the analysis of many structural variants. This is especially problematic
for inversions, since there is typically no gain or loss of DNA. Here, we tested novel linkage-
based droplet digital PCR (ddPCR) assays to study 20 inversions ranging from 3.1 to 742 kb
flanked by inverted repeats (IRs) up to 134 kb long. Of those, we validated 13 inversions
predicted by different genome-wide techniques. In addition, we obtained new experimental …

Despite the interest in characterizing genomic variation, the presence of large repeats at the
breakpoints hinders the analysis of many structural variants. This is especially problematic
for inversions, since there is typically no gain or loss of DNA. Here, we tested novel linkage-
based droplet digital PCR (ddPCR) assays to study 20 inversions ranging from 3.1 to 742 kb
flanked by inverted repeats (IRs) up to 134 kb long. Of those, we validated 13 inversions
predicted by different genome-wide techniques. In addition, we obtained new experimental …