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wes/wgs: stricter comp het inheritance filtering #4528

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@jklugherz jklugherz commented Dec 10, 2024

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@jklugherz jklugherz changed the base branch from master to dev December 10, 2024 15:23
@@ -0,0 +1,3 @@
This folder comprises a Hail (www.hail.is) native Table or MatrixTable.
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updated variant 4 here to be hom-alt for an unaffected family member (would this be a valid call in real life?) to illustrate how comp het search would behave if one sample type is invalid

Screenshot 2024-12-10 at 4 15 16 PM

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yes this is possible although not super common. But, for example, sometimes if a person has a variant on one strand and a deletion on the other the caller calls it as hom alt, so like this could happen if a parent has an alt and a deletion and the child inherits the deletion and not the alt allele. Its a weird edge case but okay to include in a test

@jklugherz jklugherz changed the title be more strict with comp het inheritance filtering wes/wgs: stricter comp het inheritance filtering Dec 10, 2024
@jklugherz jklugherz marked this pull request as ready for review December 10, 2024 21:17
@jklugherz jklugherz closed this Jan 2, 2025
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