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Question about using snv and indel score files #136

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cgy0627 opened this issue Aug 29, 2023 · 0 comments
Open

Question about using snv and indel score files #136

cgy0627 opened this issue Aug 29, 2023 · 0 comments

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@cgy0627
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cgy0627 commented Aug 29, 2023

I have downloaded the score files for use in VEP plugin of SpliceAI.

I was wondering how the scores are used to annotate my input variants.
The downloaded score files seem to contain chromosome, position, ref, and alt information same as a regular VCF file. Does it match the scores according to this information?

For example, if my input variant is on chr1, pos 9000 with ref CG, alt C, does the score on the same position with same ref/alt alleles get annotated to my variant?

Thanks in advance.

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