Figure 5.
Diverse SVs affecting the MYC locus can be identified by lrWGS. (A) Heat maps displaying the number of read clouds shared between the MYC locus and indicated genomic locations. Data from patients (n = 9) with detected SVs affecting the genomic MYC regions are shown. The connected green and orange arrows schematically indicate the areas joined by the SV. The type of SV is indicated next to the read-cloud clusters. Figure 3 and supplemental Figure 4 provide details on the interpretation of the read-cloud patterns. If the SV depicted is part of a more complex SV, this is indicated. (B-C) Read-cloud overlap between the MYC locus on chr8 and chr5 in P14402_118 (B) or chr12 in P13756_108 (C). In panels B-C, features (i-ii) used to resolve the structure of the derivate locus are indicated; schematic representations of the derivate chromosome regions are shown on the right; and tracks show the H3K27Ac signals (median ± standard deviation [SD]) for the involved regions in the indicated MM subtypes and plasmablasts (PBs). fa+ti, templated insertion occurring in a focal amplification; fa+t(r), reciprocal translocation occurring in a focal amplification; t(nr), nonreciprocal translocation; t(r), reciprocal translocation.