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Loss of function sites #122

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Asppagh opened this issue Jan 16, 2024 · 0 comments
Open

Loss of function sites #122

Asppagh opened this issue Jan 16, 2024 · 0 comments

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@Asppagh
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Asppagh commented Jan 16, 2024

I am working on AllofUs Bio-Bank data which has used Nirvana its annotations tools.
In my analysis, I need to find individuals with High confidence loss of function in a specific gene region.

But unfortunately, the annotated data does not giving me any details on to filter out the individual carrying that similar to what VEP annotators tools provides. It seems to me that the annotations does not produces such a results.
Any help on how to get this info out of the annotation files is appreciated.
@rajatshuvro ,@Fahd-Siddiqui,@shulik7, @yujiang02, @stekaz

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