Hello,
On the X-chromosome there are some homozygotes displayed for males (which doesn’t make sense), and it also gets counted into the overall number of homozygotes. This only seems to be a problem for CNVs (and not for SNVs) on the X-chromosome.
For example, in the DMD gene:
Could you please take a look?
Thanks, Gyorgy
Hi guys, I know you are super busy, but is there any progress with this?
It has been almost 5 months from my original post (i.e. Jun 14: GnomAD SVs v4, X-chromosome: homozygous males), which was partially fixed within a month (i.e. on Jun 27-28), but it remained partly erroneous. I asked there again to fix it, but nothing happened, so I’ve posted the remaining part of the error here to make sure it’s not getting considered to be already completely fixed.
However, 2 months passed since I’ve posted it, and still no answer…
It maybe just a really easy/quick fix. Can someone pls look into it?