Fig. 3

Characterization of the breakpoints giving rise to the derivative chromosomes 14 and 18 using massively parallel whole-genome sequencing and Sanger sequencing. (a) Characterization of derivative chromosome 14 and its breakpoints. The top panel shows a graphic of the derivative chromosome. The middle panel shows the sequence of chromosome 14 (orange type), chromosome 18 (blue type), the derivative chromosome, and the pileup of whole-genome sequencing reads at each junction. Forward sequence is shown as uppercase letters and reverse sequence as lowercase letters. The mate pairs spanning the translocation junction are shown in light green (arrowheads), and those spanning the inversion junction are shown in red (arrowheads). The lower panel shows the chromatogram for Sanger sequencing across the junction. (b) Characterization of derivative chromosome 18 and its breakpoints. The top panel shows a graphic of the derivative chromosome. The middle panel shows the sequence of chromosome 14 (orange font), chromosome 18 (blue font), the derivative chromosome, and the pileup of whole-genome sequencing reads at each junction. Forward sequence is shown as uppercase letters and reverse sequence as lowercase letters. The mate pairs spanning the translocation junction are shown in light green (arrowheads). The lower panel shows the chromatogram for Sanger sequencing across the junction