Question: Calling inheritance from phased/unphased genotype data
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gravatar for ebrown1955
3.7 years ago by
ebrown1955300
United States
ebrown1955300 wrote:

I'm working on a script that calls inheritance for children in complex families within VCF files.

After much thought, I'm a little confused on what to do with phased genotypes. Would these assumptions be correct? Can anyone come up with any special circumstances?

  • If the child is 0|0 and the mother is 1|1 and the father is 0|0, then the genotype is de novo
  • If the child is 1|0 and the mother is 0|0 and the father is 0|1, the genotype is de novo
  • If the child is 1|0 and the mother is 0|1 and the father is 0|1--- is this genotype de novo?
ADD COMMENTlink written 3.7 years ago by ebrown1955300
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