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Questions about the annotation input file #573

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MaryamEO opened this issue Nov 26, 2024 · 2 comments
Open

Questions about the annotation input file #573

MaryamEO opened this issue Nov 26, 2024 · 2 comments

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@MaryamEO
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Hi,

I have been wondering if it is possible to define two different domains for a gene when we want to define the corresponding domain for each gene in the file.

e.g.
1:55039839:T:C PCSK9 SET_1,SET_2 LoF
1:55039842:G:A PCSK9 SET_1,SET_2 missense

Thanks!

@Ojami
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Ojami commented Nov 29, 2024

AFAIK it's not possible, and SET_1,SET_2 will be treated as a single domain.

@joellembatchou
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Please check the details of the 4-column annotation file format when you want to use gene domains -- variants can only be assigned to a single domain for each gene.

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