Fig. 3

Overview of HS1011 analysis. A Circos plot showing the density of identified variants in a 4 Mbp window from outside in. Gene density (green), SNV and indel density (blue), SV density (reddish) for ONT sequence. B Phasing of SNVs, indels, and SVs across SH3TC2. PRINCESS was able to identify the three causative SNVs for Charcot-Marie-Tooth disease in this patient. The three stars indicate the location of the three variants and their individual haplotypes that they are assigned to