Figure 4

Difference in the size distributions of reported indels/CNVs in published personal genome sequencing studies. The graphs show variation found in a few personal genome sequencing studies [1–4, 6–8]. These diagrams indicate that multiple approaches are needed for better detection of CNVs. Here, the total variant set in the Venter genome found in both the Levy et al. [1] and the current study is displayed. Unlike the current study where the size of mate-pair indels is equal to the difference between the mapping distance and the expected insert size, the SVs in the Ahn et al. [6] study are only based on the mapping distance. Besides the NGS data, we have also included the variants detected by the high density Agilent 24 M data in the Kim et al. [7] study. In Wheeler et al. [2], insertions identified by intra-read alignment would be limited by the size of the sequencing read; hence, large insertions beyond the read length were not detected. Wang et al. [4], Kim et al., and McKernan et al. [8] detected small variants based on split-reads and large ones based on mate-pairs and microarrays, but failed to detect variation between these size ranges. Also, see Additional file 1. (a) Insertion and duplication size distribution. (b) Deletion size distribution.