Fig. 1

Visualization of genomic variants in two representative samples. Panel A shows the interstitial deletion at chr4(q12) detected in sample #1 and visualized by KaryoploteR. In the chart, the log2 copy ratio values, on the Y axis, reflects the ploidy along the chromosome. The black dots represent log2 values for each examined window (log2 ratio=0 for diploid region); the copy number segmentation of the log2 ratio is visualized by the red line. Segments were assigned gain, loss or normal copy basing on cut-off estimated by the within-segment standard deviation of post-normalized signals. The signal reduction point at the loss of genomic material caused by the del[4](q12q12). Panel B shows a chimeric read isolated in sample #4 resulting from the fusion between chromosome 5 (green) and chromosome 12 (dark yellow), visualized by Ribbon. The chimeric read spanning 18,108 bp, of which 8,756 bp mapped on chromosome 12 and 9,352 bp on chromosome 5, represents the molecular marker of the t(5;12)(q33;p13) detected in the sample