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brentp / slivar

genetic variant expressions, annotation, and filtering for great good.
MIT License
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question about the difference between comphet_side and slivar_comphet #114

Closed hust-yyan closed 2 years ago

hust-yyan commented 2 years ago

Hello, I used slivar expr for analysis and then used slivar compound-hets for analysis. The following two contents were added to INFO in the VCFs file. What are the differences between the two? image

brentp commented 2 years ago

Hi, comphet_side is per-variant. That means that the kid and exactly 1 parent were heterozygous at that site. slivar_comphet means that slivar did the phasing and found a pair of (comphet_side) variants on different haplotypes.

brentp commented 2 years ago

... so you can look at slivar_cophet and ignore comphet_side.