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Fig. 1 | Genome Medicine

Fig. 1

From: A genetic model for central chondrosarcoma evolution correlates with patient outcome

Fig. 1

Summary of Genomics England Cohort. A Summary of driver mutations by grade. IDH1 mutations are frequent across all grades, although IDH2 and TERT mutations are enriched in G2/3 and DD CS tumours. B TERT mutation and methylation status (left) and overall genomic methylation levels (right) across IDH groups. C TERT mutation status across IDH groups. Canonical TERT promoter mutations are common in IDH2-mutant tumours but rare in IDHwt tumours (left plot). In G2/3 tumours, TERT alterations are more common in IDH2 compared to IDH1 tumours (middle plot), though equally common in DD CS (right plot). p-values for tests across all IDH groups above, IDH1 vs IDH2 are marked on plots. D Mutational calling showing driver calls, genome doubling (GD) and haploidisation (HP), Battenberg copy states (diploid, gain, copy neutral LOH, and any other copy state), and Delly structural variant calls (methods). E GD and HP overview by IDH status. Timing of GD shown on right (Additional file 1: Supplementary Methods). F Mutational signature analysis demonstrating commonality of SBS2, 5, and 8, and prominence of SBS40 in IDH groups.

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