Fig. 2

Schematic illustration of the breakpoint region identified via Oxford Nanopore and Illumina whole-genome sequencing and Sanger sequencing. A Oxford Nanopore long-read sequencing confirmed in-frame exon 20 duplication. B Multiple inverted Illumina reads fine-mapped the duplication to chr17:41,203,000-chr17:41,218,000. C Sanger sequencing of the PCR-amplified amplicon junction (primer locations are indicated by the black half arrows) aligned to the BRCA1 reference sequence. Eleven consistent bp between chr17:41,206,830-chr17:41,206,840 and chr17:41,211,993-chr17:41,212,003 were identified flanked by corresponding sequences of intron 19 and intron 20. The ref. seq of intron 19 is shown in red and the ref. seq of intron 20 is shown in black. Non-matching bases are displayed in light gray