Fig 1.
NGS data analysis flow and bioinformatics tools.
Table 1.
WHO classification of cases enrolled in this study.
Fig 2.
Characterization of mutations.
(A) Mutations classified according to the categories of gene functions. (B) Circos diagram showing co-occurrence and mutual exclusivity of mutations.
Table 2.
Identification of FLT3- ITD by different NGS algorithms.
Table 3.
Genic and exonic CNVs identified.
Fig 3.
Visualization of copy number analyses.
(A) CNV analysis at the genic or exonic level was performed by comparison of read depths at base level. An example of a KMT2A (MLL)-partial tandem duplication is illustrated. (B) CNV at the whole genome level was estimated by off-target read analysis. Cryptic deletion on 7q was identified, and the case could be reclassified as AML with myelodysplasia-related changes after NGS analysis.
Table 4.
Detection of recurrent translocations in DNA samples by different NGS algorithms.
Fig 4.
With capture probes targeting intronic breakpoints, DNA sequencing could detect recurrent translocations.
An example of a case with PML-RARA fusion. The other part (mate) of each paired-end read is located in different genes in different chromosomes.
Table 5.
Germline mutations identified in patients with AML and MPN.