Open jperales opened 2 months ago
Hi @jperales ,
Thank you for using Ensembl VEP and for suggesting enhancements. Currently, allele-specific annotation is retrieved with exact
annotation type. While there is an option to add additional fields to the custom annotation, it is currently only possible for fields in the INFO column (docs). I will discuss this further with the team and get back to you.
Thanks and regards, Likhitha
Hi, I noticed that a
allele
json field is reported for matched variants in custom annotation with theexact
method. However it is not reported when theoverlap
method is used instead. Please see test case below.As far as I understand, actually this
allele
field would be more useful in the latter case. Theexact
method implies to find variants that are exactly matching the coordiantes & the alternative allele. Hence you could assume the same alternative allele as the input variant. In contrast, theoverlap
method might find several overlapping variants among which one of them might be an exact match to the input. Then thisallele
field could potentially be used to distinguish an exact match from all overlapping variants, but it is not reported anymore in this mode.Thus reporting the allele when using overlap method could be considered an interesting feature to include.
Test case
Input variant (VCF format)
Input custom annotation (GnomAD v4.0 chr1) for the input variant coordinates
There are 2 SNP and 1 indel in GnomAD v4.0. The second variant is an exact match of the input variant:
Custom annotation with
exact
modeJson output: exact.json , relevant node below. Please note that
allele
is reportedCustom annotation with
overlap
methodJson output: overlap.json, relevant node below. Please note that
allele
is NOT reported anymoreSystem
Full error message
none
Data files (if applicable)
They include:
Thank you very much for your great work! Kind regards, Javier