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Both VEP and ANNOVAR mark start losses but include the information regarding changes in the coding sequence and aminoacids.
For instance, the json from VEP with variant chr10 58224929 A G:
Would perhaps be nice to annotate these as regular annotations (Substitution, Insertion, Deletion), and then wrap them with a StartLoss in a property called alternate_effect the same way it happens for ExonicSpliceSite. Or just include aa_ref and aa_alt. (which is not that useful if the annotation has other consequences, like being a Frameshift or PrematureStop
The text was updated successfully, but these errors were encountered:
Both VEP and ANNOVAR mark start losses but include the information regarding changes in the coding sequence and aminoacids.
For instance, the json from VEP with variant
chr10 58224929 A G
:Would perhaps be nice to annotate these as regular annotations (
Substitution
,Insertion
,Deletion
), and then wrap them with aStartLoss
in a property calledalternate_effect
the same way it happens for ExonicSpliceSite. Or just includeaa_ref
andaa_alt.
(which is not that useful if the annotation has other consequences, like being aFrameshift
orPrematureStop
The text was updated successfully, but these errors were encountered: