Figure 1.

SV deletions in the coding regions of BRCA1 and qPCR validation. (A) SV deletions in the coding regions of BRCA1 were identified by multiple tools, including GenomeSTRiP, Delly, and Manta. The black track indicates the two patients carrying the SV deletion, which can be observed through the reduction of the read densities to half in the deleted regions, compared with the flanking undeleted regions (indicated by the dashed lines). (B) Results from qPCR validation. Deletions were observed among two patients predicted to carry the deletions based on the WGS data but not in 10 control samples (predicted to not be carrying the deletions based on WGS data or 1000 Genomes). Technique replications of qPCR result for each sample are represented by each dot.