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Mode of inheretance pedigree #564

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bioinfogit opened this issue Jul 14, 2024 · 1 comment
Open

Mode of inheretance pedigree #564

bioinfogit opened this issue Jul 14, 2024 · 1 comment

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@bioinfogit
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Following variant passed as autosomal recessive
from pedigree we have proband 0|1 Mother 0|1 and father 0/0 could you explain how pedigree genotypes are taking into account for variant filtering for mode of inheritance apparently many passed those filter but inheritance is not as expected like this one and many more. and is there option to do hard filtering based on what is in pedigree regardless of AFs
SNV 4-93146109-A-G [0|1:0|1:0/0]

@julesjacobsen
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julesjacobsen commented Sep 9, 2024

Exomiser uses the Jannovar library for this. Docs for AR is here:

https://doc-openbio.readthedocs.io/projects/jannovar/en/master/ped_filters.html#autosomal-recessive-filter

Was this and another variant in the gene considered as AR COMP HET?

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