Question: Looking at copy number variant data that has already been called
0
gravatar for tac
6 months ago by
tac0
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 6 months ago by tac0

If anyone has any suggestions that would be great!

ADD REPLYlink written 6 months ago by tac0
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