Figure 1.
Circos plot for WGS results for ONB.
This figure depicts the genomic location in the outer ring and chromosomal copy number in the inner ring. The SNVs and indels are marked on the outer ring in their respective genomic locations. In the inner ring, copy gains are shown in red, while copy losses are shown in green. No interchromosomal translocations were observed by assessing counts of anomalous read pairs between specific regions of the genomes, noting that the use of shorter-paired end sequencing may limit our ability to detect these events with this analysis.
Figure 2.
Differences between the germline and somatic sequences.
Details the statistics for the germline SNPs and somatic SNVs.
Table 1.
Single nucleotide variations in the seven genes chosen for validation by Sanger sequencing.
Table 2.
Validation of mutations in previously collected archival FFPE samples from the ONB patient.