Figure 4.
Identification of DUX4 and IGH@ rearranged by WGS. (A) UpSet plot detailing DUX4-rearranged event identification in 7 cases with both WGS and RNA data. (B) Graphical representation of a complex IGH::DUX4 locus configuration detected via WGS in only 2 cases (PD37188 and PD40804), which confounds the RNA fusion calling. The upper and lower loci represent the wild-type (WT) IGH locus and DUX4 loci (4q and 10q). The middle represents the IGH::DUX4 loci, where an inverted insertion of the DUX4 loci, including the proximal telomere into the IGH locus, confounds the RNA fusion calling. (C) Heatmap of IGH@ events identified using WGS and correlative evidence from RNA fusion calling, RNA expression classification, and cytogenetics (karyotype and FISH).

Identification of DUX4 and IGH@ rearranged by WGS. (A) UpSet plot detailing DUX4-rearranged event identification in 7 cases with both WGS and RNA data. (B) Graphical representation of a complex IGH::DUX4 locus configuration detected via WGS in only 2 cases (PD37188 and PD40804), which confounds the RNA fusion calling. The upper and lower loci represent the wild-type (WT) IGH locus and DUX4 loci (4q and 10q). The middle represents the IGH::DUX4 loci, where an inverted insertion of the DUX4 loci, including the proximal telomere into the IGH locus, confounds the RNA fusion calling. (C) Heatmap of IGH@ events identified using WGS and correlative evidence from RNA fusion calling, RNA expression classification, and cytogenetics (karyotype and FISH).

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