Figure 1

Rearrangements in colorectal tumors detected by long mate-pair sequencing. (a) Circos plots displaying rearrangements and their chromosomal locations in primary and metastatic colorectal tumor samples. Rearrangement fusion points and orientations are indicated by colored links: red, head-head; blue, tail-head; green, head-tail; orange, tail-tail (low coordinate to high coordinate). Chromosome ideograms are shown on the outer ring. The inner two rings show copy number profiles based on log R ratios derived from SNP array analysis. Red copy number plots correspond to the liver metastasis and blue plots correspond to the primary tumor. Copy number variation for matching normal colon and liver tissue are plotted in black. (b) Classes of rearrangements identified in tumors of the four patients. Deletion-type rearrangements have tail-head orientation, tandem duplication type rearrangements have head-tail orientation and inverted rearrangements have head-head or tail-tail orientation. (c) Lesion-specific presence of rearrangements in primary and metastatic tumors as based on PCR genotyping of DNA samples from primary tumor, metastasis and control tissue.