Hello,
I'm loving GEMINI as the new tool for diagnosing rare genetic diseases at the BC Children's Hospital, and really appreciate the predefined and unit-tested inheritance models.
I have a question about the compound het inheritance models, which are used to identify candidate autosomal recessive disease genes. Specifically, I want to know if de novo mutations (DNMs) get incorporated into the compound het model. The situation I'm hoping to clarify is the following:
We have a DNM in a proband with two healthy parents. The DNM is in an autosomal recessive disease gene, and alone we are not convinced it is producing the phenotype. I am wondering if the compound het model would include this DNM to be paired with other potentially damaging het variants in the proband, perhaps a damaging variant inherited from one of the two parents.
If this is unclear I am happy to clarify.
Cheers,
Phil