Ratio of sample to median corrected depth of coverage indicates variant regions. Each subplot shows ratio across one targeted region (PTEN, BRCA2, BRCA1, and CHEK2), with CNVs shown as colored datapoints. Using depth of coverage with map confirmation, we identified 10 CNVs (5 deletions (one homozygous), 4 duplications, and 1 triplication) across 21 targeted regions (909 kbp) for 96 barcoded samples. CNV size ranged from 31 bp to 26560 bp. Ratio calculated by comparing corrected normalized sample coverage to median coverage within one flow cell lane. Diploid bases are plotted in grey, while colored datapoints indicate copy-number variant bases for one sample. Non-targeted repeat sequence is shown in black at bottom of each plot.
Nord et al. BMC Genomics 2011 12:184 doi:10.1186/1471-2164-12-184