Fig. 1: Visualization of Δ3’HMGA2 by Integrated Genome Viewer and Sanger method. | Leukemia

Fig. 1: Visualization of Δ3’HMGA2 by Integrated Genome Viewer and Sanger method.

From: A novel approach for highly sensitive and rapid identification of HMGA2 submicroscopic deletions in myeloproliferative neoplasms

Fig. 1

The image shows the Δ3’HMGA2 as visualized by long-read and Sanger sequencing. The Δ3’HMGA2-supporting reads generated by the long-read assay were sorted and imaged through Integrated Genome Viewer (IGV). The snapshots show also chromosome cytoband, reference coordinates, the coverage track and Δ3’HMGA2 size. Panel (A, B) show the deletion of HMGA2 observed in the post-ET MF (Cohort1_4.23) and MF-BP (Cohort1_enb.01) patients of Cohort-1 with GRCh38 coordinates chr12:65964148-65965814 (AR:21.3%) and chr12:65964116-65966249 (AR:0.6%), respectively. Panel (C, D) show Δ3’HMGA2-supporting reads belonging to the post-ET MF (Cohort2_2.56) and PMF (Cohort2_1.9) patients of Cohort-2 with coordinates chr12:65964074-65965055 (AR: 0.5%) and chr12:65964404-65966283 (AF:10.5%), respectively. Panel (E) shows a representative sequence of Δ3’HMGA2, as determined by Sanger sequencing of the PMF patient Cohort2_1.9.

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