Representative RNA Exon Variant plots
1
2
The X
‑
axis represents specific exon variants, where each variant is labeled with a gene ID followed by a sequence of adjacent
exons. The Y
‑
axis measures the read counts for each variant, normalized to the wild type.
1
Example analysis where only the wild type EFGR (EFGR.E6E7) was detected.
2
Example analysis where RNA exon 2–7 deletion occurred in the EFGR gene. The deletion of exons 2–7 resulted in an
increase of normalized read counts for the EFGR variant that contains the intragenic fusion of exon 1 and exon 8
(EFGR.E1E8.Del1) and a decrease of normalized read counts for the wild type EFGR (EFGR.E6E7).
To return to the table view of fusions, click Show Variants.
The CNVs table lists the calls and other information for the copy number variants
(CNVs) analyzed in each sample in a run.
To view the CNVs table, in the Results > Run Results screen, click the sample name
in the Sample Name column, then click CNVs in the left navigation pane of the
View Results screen.
The data displayed in the table depend on the assay that was used in the run. Filter
the results list in the table using the filtering tools. For more information, see “Filter
results“ on page 102.
Click Export in the upper right corner of the screen to export the data in tabular
format.
Column
Description
User Classifications
A user-defined classification selected from the list.
For more information, see “Create and assign variant classifications“ on page 102.
Locus
The starting position of the first amplicon covering the CNV gene.
CNV results
Chapter 9
Review data and results
View sequencing results and run metrics
9
Genexus
™
Integrated Sequencer User Guide
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