Fig. 1. Comparison of structural variants called with long-read sequencing and short-read sequencing.

A comparison of structural variants identified in Trio 5 between long-read sequencing using PBSV and short-read sequencing using three algorithms for structural variant detection. The plot depicts the number of different structural variants that were identified by each combination of methods, indicated below the corresponding bar. Deletions in red, insertions in blue, and inversions in yellow. The bottom left bar plot depicts the total number of SVs identified with each method. B Pie charts show the number of mendelian inheritance errors for the three types of SVs identified by LRS and the percentage of concordant calls.