Visualize the BRCA report

Some Oncomine™ assays used with Ion Reporter™ Software include BRCA1 and BRCA2 amplicons that enable detection and visualization of whole exon and multiple exon deletion in BRCA1 and BRCA2 genes in somatic and germline samples with high sensitivity.

  1. In the Analysis Results screen, click Visualize.

    When you open a visualization for a panel that contains amplicons that target the BRCA1 and BRCA2 genes, you can view a BRCA Report that shows a boxplot of read counts of each BRCA1 and BRCA2 exon that are normalized to the Oncomine BRCA DNA Baseline. The Post-Corrected view is shown by default. Click Pre-Corrected to view the uncorrected raw data.

    Figure 1. Normal sample, no BRCA whole-gene or exon deletion

    Example post-correction boxplot (Figure 1 a) of a tissue normal sample without whole-gene or exon deletions in either the BRCA1 or BRCA2 genes. The data have less variability relative to the pre-corrected view (Figure 1 b).

    In Ion Reporter™ Software 5.16 or later, the Post-Corrected view normalizes the abundance of the amplicons in BRCA1 and BRCA2, bringing the median coverage of amplicons in BRCA1 and BRCA2 to comparable values. This correction is used to detect exon deletions in the BRCA1 or BRCA2 genes (Figure 2). As a result the Post-Corrected view does not show any whole-gene deletions or duplications in BRCA1 or BRCA2 (for example, somatic CNVs). This behavior is different than in the earlier version of Ion Reporter™ Software (5.14), where whole-gene deletions were visible in the Post-Corrected view. To view whole-gene deletions or duplications, review the Pre-Corrected view (Figure 3) or the IRGV & Generate Report tab.

    Figure 2. Tumor sample with BRCA exon deletion

    Example Post-Corrected boxplot of a tumor sample with an exon deletion in the BRCA2 gene.

    Figure 3. Tumor sample with BRCA2 whole-gene deletion

    Example Pre-Corrected boxplot (Figure 3 a) of a tumor sample with a whole-gene deletion in the BRCA2 gene. The whole-gene deletion is not visible in the Post-Corrected view (Figure 3 b).

    Note: If either of the BRCA1 or BRCA2 genes is amplified, the other BRCA gene could be incorrectly described as being deleted. To identify whether a BRCA gene has been amplified or the other BRCA gene deleted, review the Pre-Corrected boxplot to compare the abundance of the amplicons in both the BRCA1 and BRCA2 genes compared to all the other genes.

  2. Click the IRGV & Generate Report tab to view exon deletions or duplications on chromosomes 13 and 17.
    1. Click to open the Sample Analysis Summary in a separate browser window

    2. Zoom in and zoom out for the selected chromosome

    3. Click to select and view a chromosome

    4. Slide the MAPD filter to adjust the threshold value. This filter applies to the entire sample. If the reported MAPD value is higher than the selected MAPD filter value, no CNVs are shown in the BRCA Report.

    5. Scroll down in this section to see more of the alignments or hotspots.

    6. Oncomine BRCA Expanded designed BED file alignment. This IRGV track shows the alignment of the amplicons to the reference sequence.

  3. Click IRGV Export & Preferences to open the visualization in IGV, export the whole genome view or the IRGV tracks to a PNG file, or show IRGV preferences.