Atypical BAF profile in duplication
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
Marine
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Ho did you calculate the BAF and LogR? Does the region arbor known copy number variants / segmental duplications?
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)