Question: Looking at copy number variant data that has already been called
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tac • 0 wrote:
Dear Biostars community,
I have a dataset of patients:
cohort 1 are patients with a specific disease who have had their structural variants (SV) called using MANTA/CANVAS (Deletions, Translocations, Deletions,Tandem duplications, Insertions, Inversions). I have then filtered this data into calls made in the exons of a number of genes of interest
cohort 2 is the same but in patients with other rare diseases but not the one of interest.
I want to see if the SVs in cohort 1 are significant to gene function as well as to see if they are unique when compared to cohort 2.
Is there a tool on Galaxy that can help with this? Apologies if this is unclear, please let me know if I can clarify anything here.
Many thanks
If anyone has any suggestions that would be great!