23 research outputs found
Identification of <i>FLT3</i>- ITD by different NGS algorithms.
Identification of FLT3- ITD by different NGS algorithms.</p
NGS data analysis flow and bioinformatics tools.
NGS data analysis flow and bioinformatics tools.</p
Characterization of mutations.
(A) Mutations classified according to the categories of gene functions. (B) Circos diagram showing co-occurrence and mutual exclusivity of mutations.</p
WHO classification of cases enrolled in this study.
WHO classification of cases enrolled in this study.</p
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.</p
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.</p
Detection of recurrent translocations in DNA samples by different NGS algorithms.
Detection of recurrent translocations in DNA samples by different NGS algorithms.</p
Germline mutations identified in patients with AML and MPN.
Germline mutations identified in patients with AML and MPN.</p
Receiver operating characteristics (ROCs) curve analysis for the diagnostic value of miR-21.
<p>The area under the ROC curve (AUC) was 0.648 (95% CI: 0.49 to 0.72).</p
