You signed in with another tab or window. Reload to refresh your session.You signed out in another tab or window. Reload to refresh your session.You switched accounts on another tab or window. Reload to refresh your session.Dismiss alert
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.
The text was updated successfully, but these errors were encountered:
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.
The text was updated successfully, but these errors were encountered: