Fig. 2.

Accuracy of variant identification. The performance of variant identification was assessed separately for indel (a) and SNP variants (b) by comparing the variants identified on the Ion Proton platform with the gold standard calls provided by GIAB consortium for sample NA12878. The comparison was conducted on samples sequenced using the v3 chemistry and the PI v2 chip, as well as the HiQ chemistry and the PI v3 chip. Results were also compared with those obtained using an Illumina-based exome sequencing of NA12878. The total number of variants in the GIAB and tested datasets are reported in brackets and the % of variants overlapping or unique to each compared dataset are shown in the Venn diagrams. Accuracy statistics are also reported for each comparison