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Differences in impact severity between gemini and vcf2db on vep 'MODIFIER' impact variants #62

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nvteja opened this issue Oct 1, 2019 · 0 comments

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@nvteja
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nvteja commented Oct 1, 2019

Hello,

Gemini documentation classifies variants with certain impact_so terms such as 'mature_miRNA_variant' and 'TF_binding_site' as 'MED' impact_severity variants. I use VEP for annotating variant effects, and VEP annotates these variants as having 'MODIFIER' impact . When I load these 'MODIFIER' impact variants into a gemini db using vcf2db - it tags these MODIFIER impacts variants with impact_severity as 'LOW' rather than 'MED' impact_severity as suggested by Gemini. Is there a reason for this impact_severity mismatch between official GEMINI documentation and vcf2db for 'MODIFIER' variants? Are all 'MODIFIER' impact variants automatically classified as 'LOW' impact severity by vcf2db?

Thank you,
Teja.

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