Genotype phasing with lack of parental information - compound heterozygous
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22 months 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 • 381 views
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