Fig. 1

Overview of SVachra and sample output. a Workflow schematic. b Insert size distribution of the HS1011 Nextera mate pair sequencing library with ~300 bp inward facing read fragments and ~6.5 Kb outward facing read fragments. c Circos [10] visualization of putative SVs detected in the HS1011 Nextera sequencing library with tiles: insertions (blue), deletions (red) and inversions (orange), and links: intra-chromosomal (green) and inter-chromosomal rearrangements (purple)