Question: Genotype phasing with lack of parental information - compound heterozygous
gravatar for vntt2407
19 months ago by
vntt240710 wrote:

Hi, I have a question regarding genotype phasing from exome sequencing results.

So the thing is I've found two heterozygous variants (likely pathogenic) in two patients (siblings) - likely to be compound heterozygous for the disease; however, I can only obtain genotype of the mother (father is deceased)

And my question is how can I confirm/predict with proof about the phasing status of the pathogenic variants (cis or trans)?

ADD COMMENTlink written 19 months ago by vntt240710
Please log in to add an answer.


Use of this site constitutes acceptance of our User Agreement and Privacy Policy.
Powered by Biostar version 2.3.0
Traffic: 2258 users visited in the last hour