Fig. 2. Concordance of Astrolabe, Aldy, and Stargazer for all theoretically possible CYP2D6 diplotype combinations (homozygous and heterozygous) comprising SNV-defined haplotypes with PharmVar definitive or moderate level of evidence from our starting set.

We left the allele databases of the three tools as is in order to examine the effect of the undefined suballeles on diplotype calling. The sequencing coverage for each test case was 30× and default parameters were used for each tool.