Fig. 4

Overview and application of PacBio validation approach to human data. a Dot plot of the sample region containing a simple deletion using a single PacBio read against the reference genome. Red dots indicate matches between sequences and dashed black lines delineate 10 % deviance from the diagonal. b Dot plot of the same region using an altered reference incorporating the deletion event. c Fraction of TP calls using validation approach on published deletions in NA12878 (black) and CHM1 (gray) and CN2 regions as negative controls. Dashed black lines indicate regions that could not be assessed due to lack of PacBio reads to interrogate. d Assessment of specific predicted complex structures by SVelter using PacBio reads in NA12878 (black) and CHM1 (gray)