Figure 3
The SF3B1 mutation identified in case#2 thanks to MinION and validated by ASO-PCR. Aligned reads are visualized by the Integrative Genomics Viewer (IGV) browser (on the left). The genomic position, and the depth of sequencing for each base are reported as a gray bar. Variants with an allelic ratio >10% are reported as colored depth of sequencing bars, where each color represents the specific base fraction. As shown, the mutation was barely visible in SS (on the right) and was validated by ASO-PCR (at the bottom). The original image of the gel is provided as Supplementary Fig. S4.
