As part of Franklin's Whole Genome Sequencing workflow, a whole genome viewer is available to visualize the entire genome in a single view. This tool aids in identifying large deletions, duplications, loss of heterozygosity (LOH), and mosaic states.
Access to this viewer is located at the top of the Workbench page, and it includes three tracks:
Coverage - Displays the depth across the genome, with a dynamic scale according to the sample coverage distribution.
Allele balance - Shows the balance between the A and B alleles.
Predicted copy number - Franklin's copy-number variant caller, Rainbow, predicts the copy number across the genome.
Furthermore, it is possible to zoom in and view a specific chromosome by selecting it on the menu or clicking on the chromosome number.
A typical display of a deletion and duplication can be seen below:
Deletion:
Duplication:
Still have questions? Reach out to our Support Team, they'll be happy to help!