Question: Atypical BAF profile in duplication
gravatar for Marine
2.0 years ago by
Marine0 wrote:

Hello everyone !

I'm using SNP array and I recently got a weird profile : we have a duplication (with an increased Log Ratio) but with a normal BAF (0/0.5/1) and it almost seems that the BAF at 0.5 is a little below 0.5.. but it is not doubled as it should be with the duplication. We already know it is not a duplication in mosaic (at least not with a normal cell line) because we performed FISH analysis and there is a real duplication in all mitosis. We think maybe this could be a duplication/triplication mosaicism ? But we would still have a doubled BAF, right ? Has anyone already seen a profile like that ?

Thant you very much


snp • 427 views
ADD COMMENTlink written 2.0 years ago by Marine0

Ho did you calculate the BAF and LogR? Does the region arbor known copy number variants / segmental duplications?

ADD REPLYlink written 2.0 years ago by Kevin Blighe56k

BAF and LogR were calculated by our software from Illumina so we don't have all the calculs (I'm sorry, I'm not a bioinformaticist), the same way as every other SNP array we do. And yes, the region is known for deletion (1p36)

ADD REPLYlink written 24 months ago by Marine0
Please log in to add an answer.


Use of this site constitutes acceptance of our User Agreement and Privacy Policy.
Powered by Biostar version 2.3.0
Traffic: 1505 users visited in the last hour