Comparing results of mapping and variant calling between PacBio and Illumina paired-end sequencing. (A) Venn diagram showing the intersection of structural variants between the Sniffles call set versus the SURVIVOR 2-caller consensus, with counts indicated. (B) Percentage of variant calls in each area of Venn diagram in A that have matching CNV calls within 50 kbp (the smallest segment allowed in segmentation), where a CNV is a difference in copy number (long-read sequencing) between segments of at least 28×, the diploid average. (C) Venn diagram showing the intersection of long-range variants between the Sniffles call set versus the SURVIVOR 2-caller consensus. Validation rates are shown as percentages below the counts for each category, and extrapolated overall validation rates are shown for Sniffles and SURVIVOR.
