Genotype phasing with lack of parental information - compound heterozygous
0
1
Entering edit mode
5.5 years ago
vntt2407 ▴ 10

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)?

sequencing genotype phasing trio • 876 views
ADD COMMENT

Login before adding your answer.

Traffic: 1637 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6