Fig. 3

Tumour GB176. a Heatmap and partial heatmaps of tumour GB176 showing some of the rearrangements present in this tumour. b Hi-C ‘other ends’ from regions distal and proximal to the suspected breakpoint on chromosome 1 (top) and chromosome 20 (bottom) showing the breakpoint regions. A sudden drop-off in the number of reads can be seen where the remaining chromosome is not involved in the translocation and is therefore not in cis. c Left: Polymerase chain reaction (PCR) on tumour and blood DNA from GB176 showing amplification products from both derivative chromosomes, indicating a balanced translocation. Right: BLAT results from sequenced tumour specific PCR amplicons showing the breakpoint regions on chromosome 1 (top) and 20 (bottom). The gaps in the BLAT results show deletions at the translocation breakpoints