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Fig. 3 | Genome Biology

Fig. 3

From: Computational validation of clonal and subclonal copy number alterations from bulk tumor sequencing using CNAqc

Fig. 3

Analysis of a skin melanoma sample with PCAWG consensus calls. a CNAqc visualization as in panel a of Fig. 2. This sample presents high aneuploidy (mean ploidy 3.69), with most of the genome in triploid 2:1 segments, a very large mutational burden (~ 300,000 mutations) and large subclonal CNAs on chromosome 11. The CNAqc visualization shows the relative subclone proportions as shifts of the y-axis for the segment, as in Battemberg [15]. b CNAqc validates the calls by peak detection. Note that most of the signal is due to ~ 80,000 mutations mapping to 2:1 segments (~ 75% of total). c CNAqc validates 18 out of 20 expected peaks in complex CNAs (3:0, 3:1, 3:2, 3:3, 4:0, and 4:2). d CNAqc validates subclonal CNAs on chromosome 11, where two subclones with 2:1 genome (21% of cells) and 2:2 genome (79% of cells) are detected, using both linear and branching models of evolution

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