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RNA-sequencing of fusion genes in AML
tive novel fusion events are presented as Circos plots19 in Figure 3. Based on sample availability, we validated known fusion genes by PCR analysis that were exclusively found by RNA-sequencing in one sample (AM-0292-DX: DEK- NUP214) (Online Supplementary Figure S4). Moreover, 14 out of the 157 putative novel fusion events had an entry in ChimerDB or Mitelman Database but were not classified as known based on the criteria in the present study.
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NRIP1-MIR99AHG is a novel recurrent fusion gene resulting from inv(21)(q11.2;q21.1)
Beyond the detection of known rearrangements, we sought to identify novel recurrent fusion genes. Among our 157 putative novel fusion genes, we found NRIP1- MIR99AHG (Figure 4A) resulting from inv(21)(q11.2;q21.1) in six and LTN1-MX1 (Online Supplementary Figure S5) resulting from inv(21)(q21.3;q22.3) in two patients’ sam-
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Figure 5. Gene expression of genes involved in fusions. Gene expression of the 5' and 3' partner genes of the respective fusion. Red dots indicate samples positive for the respective fusion, gray dots represent samples negative for the respective fusion. TPM: transcripts per million.
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