Figure 3.
Genomic profile of iAMP21-ALL. (A) Oncoprint of focal genomic changes in iAMP21-ALL. Sequence mutations were detected among WGS, WES, and WTS data. Copy number variations were detected using WGS and SNP array data. Internal tandem duplication and gene fusions were detected using WTS data. Variations in common pathways, including JAK-STAT signaling, Ras signaling, B-cell differentiation, transcriptional regulation, cell cycle/apoptosis, epigenomic, and PI3K-AKT signaling ubiquitination, are shown. Subgroup, data availability, and cluster location based on WTS data (ExprCluster) (Figure 1C) are shown across the top of the heatmap. (B) Heatmap showing genome-wide copy number profiles for 102 cases with high quality WGS. Log2 ratios of copy number calculated based on the tumor and germ line samples for each case were used, with red and blue indicating copy number amplification/gain and deletion, respectively. Each row represents a sample. The subgroup information is shown on the left. The relative frequencies for copy number amplification (red) and copy number deletion (blue) across all the cases are shown at the top. The genes with a high frequency of focal deletion are highlighted.