Column
Description
Oncomine Driver
Gene
The gene believed to be associated with increased oncogenic properties. The gene is
inappropriately activated by the fusion.
Mol Cov. Mutant
[1]
The median molecular coverage across a fusion amplicon.
Imbalance Score
[2]
Each fusion gene exhibits a characteristic Imbalance Score threshold. Scores that exceed
this threshold value indicate a high likelihood of the presence of the fusion in the test
sample.
• Observed = (sum of read count coverage of amplicons downstream (3') of a predicted
breakpoint in a target gene) / (sum of read count coverage of all amplicons of the gene)
[Read counts from test sample]
• Expected = (sum of baseline value for amplicons downstream of the breakpoint/sum of
baseline values) / (sum of baseline values of all amplicons of the gene) [Baseline values
computed from normal samples]
Imbalance P
‑
Value
[2]
The statistical significance of measure of imbalance relative to a control gene.
Predicted Break-
point Range
[2]
The exonic range for predicted fusion break point in exon tiling assays.
Ratio To Wild Type
The molecular ratio for exon skipping assays relative to wild type control amplicons.
Norm Count Within
Gene
[1]
(Lung panel only) Exon skipping assay coverage normalized to molecular coverage of wild
type (WT) MET control amplicons.
[1]
Column appears in analyses of Ion AmpliSeq
™
HD sequencing data only.
[2]
Column appears in analyses that use the exon tiling fusion detection method.
View RNA Exon Variant
The RNA Exon Variant data view displays a bar graph summary of intragenic exon
rearrangements or fusions. The displayed RNA exon variants are defined in the BED
file that is associated with an assay. The RNA Exon Variant data view is available for
all RNA and Fusion assays.
Note:
To review RNA Exon Tile Fusion Imbalance analysis plots, see the Genexus
™
Software 6.0 User Guide, or see the user guide for your assay.
1.
In the menu bar, click Results
4
Run Results
2.
In the Results > Run Results screen, click a sample of interest to open the View
Results screen.
3.
In the Fusions screen, click Visualization
4
RNA Exon Variant above the
fusions table, then review the RNA Exon Variants plot.
Chapter 9
Review data and results
View sequencing results and run metrics
9
98
Genexus
™
Integrated Sequencer User Guide
