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Fig. 5 | Genome Biology

Fig. 5

From: GRIDSS2: comprehensive characterisation of somatic structural variation using single breakend variants and structural variant phasing

Fig. 5

a Impact of false negative rate (FNR) on complex event resolution. The y-axis indicates the portion of structural variants that form part of a resolved chain of SVs at least as long as the chain length indicated on the x-axis. LINX results for GRIDSS2 calls on the Hartwig and PCAWG cohorts are shown along with simulated results from downsampling the Hartwig cohort to the specified FNRs. A low FNR is essential to accurate complex event resolution. b Circos plot of SMAD4 driver deletion event. The interpretation of this deletion is confounded by the presence of 3 short fragments at the breakpoint. This event can be fully resolved by GRIDSS2 SV phasing. Circos tracks from innermost to outermost are: single breakends (open white circles) and breakpoints, LOH, copy number, connected segments, genes, chromosome. c Circos plot of chromothripsis overlapping centromeric sequence. This event spans across the chromosome 7 centromere. A subset of the chromothriptic fragments have been inserted into chromosome 4. Each SV chain is represented in a different colour

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Genome Biology

ISSN: 1474-760X

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