Stream: genomics
Topic: CNV size
Patrick Werner (Jun 06 2019 at 09:52):
our lab send the size of a CNV with this valueSet (Chromosome, p-Arm, Q-Arm, partial p-Arm, partial q-Arm, focal, non-focal, cluster) do we see a need to have a component for this in our IG?
Bob Dolin (Jun 06 2019 at 21:51):
The use case I'm familiar with is the need to know which genes are affected by a CNV. Seems like even if the lab tells me that there are extra copies of, say, part of the p-arm, it's not telling me much more than I already know if the lab gives me some indication of (fuzzy) start and end coordinates.
Kevin Power (Jun 07 2019 at 21:08):
I haven’t see a ton of examples in this space, but i can’t say i have seen that level of detail in many reports. Not sure if they are broadly applicable or not?
Dora Walter (Jun 11 2019 at 11:20):
The size of CNV is important to know in order to draw conclusions about potentially therapy-relevant genes.
In my opinion, a more detailed description of the size of CNV is helpful if such information as affected genes are not reported by the laboratory.
However, I have to agree with Bob that the size report does not provide much added value. It only limits the amount of potentially affected genes.
Last updated: Apr 12 2022 at 19:14 UTC
