Question: Looking at copy number variant data that has already been called
gravatar for tac
12 months ago by
tac0 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

ADD COMMENTlink written 12 months ago by tac0

If anyone has any suggestions that would be great!

ADD REPLYlink written 12 months ago by tac0
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