Miscalled De Novo – Parent Het for 8bp Del

The daughter is called de Novo heterozygous, but clearly the mother is as well. It turns out the mother has a 8bp heterozygous deletion just upstream of this locus on the other chromosome. The variant caller was shy to call a variation so close to an InDel, but the data clearly shows it’s there.

Leave a Reply

Your email address will not be published.