Fig. 1

Comparison between de novo assembly, short-read and long-read mapping approaches to identify structural variants. For de novo assembly approaches, the relative positions of the segments in the dot plot indicate the type and size of the SV. For short-read-based mapping approaches, paired-end (red) and split reads (purple) are typically used to decipher the type size and location. In addition, the coverage can be used to improve the detection of deletions and duplications. Long-read-based mapping approaches typically leverage the alignment patterns of long reads (green) to detect the different types of SVs