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. Author manuscript; available in PMC: 2014 Jul 15.
Published in final edited form as: Cell Rep. 2014 Apr 3;7(1):104–112. doi: 10.1016/j.celrep.2014.03.003

Figure 1. Whole genome sequencing of osteosarcoma.

Figure 1

a) Representative CIRCOS plots of validated mutations and chromosomal lesions in a diagnostic and metastatic osteosarcoma tumor from different patients. Loss of heterozygosity (orange), gain (red), and losses (blue) are shown. Intrachromosomal translocations (green lines) and interchromosomal translocations (purple lines) are indicated. Sequence mutations in Refseq genes included silent single nucleotide variants (SNVs, green), nonsense and missense SNVs (brown), splice-site mutations (dark blue), and insertion/deletion mutations (red). An additional track was added to the innermost ring of the plot showing the density of SNVs to highlight regions adjacent to SVs characteristic of kataegis. b) Boxplots of validated basal mutation rate (BMR), number of non-silent single nucleotide variations (SNVs), total structural variations (SVs) and number of total copy number variations (CNVs) in the ERMS and ARMS tumors in the discovery cohort. The (*) represents statistical significance of p<0.001 as compared to the osteosarcoma genomes. c) Representative plot of sequence reads on chromosome 12 for the matched germline (green) and tumor (red) sample. Several distinct regions of copy number change are identified (arrows) spanning the MDM2 gene consistent with sequential chromosomal lesions. d) MDM2 FISH of SJOSO18 showing amplification (red) relative to the probe for chromosome 12 (green). Abbreviations: ERMS, embryonal rhabdomyosarcoma; TALL, T-cell acute lymphoblastic leukemia; MB, medulloblastoma.