Figure 1.

Identification of SVs in leukemia genomes. (A) Schematic overview of the analytical pipeline to identify SVs from WGS. (B) Bar plot depicting the number of tier I SVs identified per sample. Each color within each bar represents a unique class of SV. (C) Bar plots showing the size distribution of SVs (distance between 2 break points). For TL, only intrachromosomal TL are included for analysis. (D) Bar plots showing relative enrichment or depletion of SVs within genomic region. Positive and negative log₂ observed/expected ratios indicate enrichment and depletion of SVs, respectively. (E) Pie charts showing the distribution of total SVs and individual SV classes in the coding vs noncoding genome. (F) Identification of a representative t(5;14) TL by WGS and OGM in UT242. Coordinates correspond to the human hg19 genome assembly. Arrowheads indicated so-called chromosomal break points. The piled WGS paired reads supporting the detected TL are indicated on the bottom. The pink and green colored reads indicate the forward and reverse orientations, respectively. (G) Circos plots of recurrent t(5;14) in independent samples.