Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes

Figure 3

Identification of tandem duplication insertion breakpoints spanning BRCA1 exon 11, using paired-end sequencing. (a) Mapped read pairs in the wrong orientation indicate a tandem duplication. (b) Ambry’s breakpoint detection tools can identify clusters of read pairs with soft clipping which indicate rearrangement breakpoints.

(a)

(b)