Figure 5

Screenshot of CN state comparison visualisation mode. The CN state comparison of 30 healthy subjects is reported. Only the CN state comparison of autosome chromosomes is shown. SNPs with a diploid state (CN state 2) in all samples are in black; SNPs with a CN state lower than 2 (deleted) in all the samples are in blue; SNPs with a CN state lower than 2 in only some samples are in yellow; SNPs with a CN state greater than 2 (duplicated) in all the samples are in red; SNPs with a CN state greater than 2 in only some samples are in pink; and SNPs that were simultaneously duplicated and deleted in different samples are in green. In this figure, a duplication (pink) common to some samples is highlighted by an arrow. The position of one of the SNPs belonging to the highlighted deletion is reported at the bottom of the window. In the figure, a "Probe data" window is also reported. This window can be opened by double-clicking on any SNPs/squares visualised, and it displays the intensity value and the genotype of all compared samples for that particular SNP.