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phase_common sometimes creates Mendelian errors for missing genotypes when phasing with --pedigree #109

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kkellysci opened this issue Aug 23, 2024 · 0 comments

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@kkellysci
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kkellysci commented Aug 23, 2024

I am phasing a sample of parent/offspring duos/trios/quads using phase_common with the --pedigree flag.

When I ran checks on the output phased data, I found that it contained Mendelian errors that were not present in the original data.

I checked some of affected people/loci in the original data, and found these are all sites where at least one parent had missing genotype data. I think phase_common may be ignoring the pedigree data when it imputes the missing genotypes, and sometimes creating Mendelian errors as a result.

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