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Fig. 2.

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Fig. 2. Additional finding of EP300::ZNF384 fusion by OGM in S18. (A) Genome map view showing the EP300::ZNF384 fusion. Map of S18 (blue) aligned to reference maps of chromosome 12 and chromosome 22 (green), with breakpoints in ZNF384 and EP300, respectively. Label alignments between the reference and sample genome maps are indicated by gray lines. Translocation breakpoints are indicated by pink lines. (B) Confirmation of the EP300::ZNF384 fusion using Sanger sequencing. The red arrow indicates the breakpoint.
Abbreviations: OGM, optical genome mapping; chr, chromosome.
Ann Lab Med 2024;44:324~334

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