Figure 2

Size distribution. All HS1011 SV events larger than 100 bp and less than 100,000 bp were compared to events from the Venter genome (HuRef) and an Asian Male (YH), both specifically characterized for SV content. In this size regime, the HS1011, HuRef, and YH samples contain 5044, 5127, and 5374 deletions (panel a) and 4482, 4479, and 15525 insertions (panel b), respectively. The YH SV distributions are based on de novo assembly of 35 bp single-end and paired end data. This assembly was used to identify SVs between 1 bp and 50 kbp. Initial events larger than 50 bp were filtered using discordant paired-end mapping of ~35 bp reads. Given the relative abundance of HS1011 sequence data (including both long reads and longer short reads as compared to the YH short reads), and given the differences in methods, it is unlikely that the ~3-fold difference in insertions between the YH set and the HS1011 and HuRef sets represents a significant lack of Parliament sensitivity.