Fig. 4.
Laboratory evidence suggesting a duplication. a Next-generation sequencingNGS data showing an apparent duplication of exons 5–10 of BRCA2. Exons at normal dosage align to two alleles on the y-axis, whereas in duplications they align to three alleles. b Microarray-based comparative genomic hybridization data clearly demonstrate that the duplication also includes the first half of exon 11. Microarray probe clusters at normal dosage center at zero on the y-axis, whereas duplications center to approximately 0.4–0.5