Figure 2.

A BRCA1 deletion escaped from variant calling when primers were trimmed before mapping. NGS read alignments of BRCA1 c.1620_1636del allele from three primer handling approaches are shown in conjunction with the amplicon design and reference genome sequence. Individual forward and reverse sequencing reads after any soft-clipping were represented by red and purple horizontal lines, respectively. The expected deletion event (black box) was present in the alignments from approaches 2 and 3 only.