Fig. 3.

ERBB2 amplification of the SK-BR-3 cell line. Amplification of a region including the ERBB2 gene in chromosome 17 with four translocations to chromosome eight detected using ONT PromethION whole-genome sequencing data at 46× depth [51] (upper panel). The upper-half y-axis indicates the sequencing depth. The amplification spans 3.6 Mb. The size of the amplification is larger than any sequence reads, so the structure of the amplification cannot be resolved precisely. The green lines indicate the breakpoints of translocations to chromosome eight (lower panel), as called by Sniffles. The ERBB2 gene is very important for breast cancer in terms of diagnosis and treatment. The reconstruction of the ERBB2-related SVs may lead to a detailed effect of existing ERBB2-targeting drugs. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)