dnil
commented
9 months ago That is a good question! I always assumed it was due to the residual variants in the rather poorly covered centromere region from hg19 appearing homozygous, and perhaps it still is, but there is a little bit more to it. In particular, why not always - as in why not all individuals and all centromeres? Lets investigate a bit at curiosity level, but it could also lead to better displays - one kind of jumps at these blocks, and they are not really informative.
Hello,
I'm new to SCOUT and comparing chromographs of different cases I saw an interesting difference. In the chromatograph, under the ideogram of each chromosome, there are gray areas denoting homo-/hemizygous regions. As expected, the areas below the centromeres and a subset of pericentric regions are omitted. In case F0056512, I observed a "haploblock" under the centromere of chromosome 1 (see image below) and in case F0056591 the same occurred for chromosome 8. I wonder what could be cause of this?
This "artefact" does not affect the analysis in any way and hence the priority of this issue is low, I'm just curious to understand more and colleagues motivated me to ask for further information. :)
Best regards, Angelo Salazar Mantero Clinical Laboratory Geneticist (in training)