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Makes sense for displaying the consequence. For the "annotations" panel of the search interface, the reason we thought we might added the SpliceRegion annotations under Extended Splice Site header is that the SpliceRegion annotations are types of "Extended Splice Site" variants, i.e. providing detail in addition to the existing "splice_region_variant" annotation. But we're open to keeping them separate if it's less confusing. |
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In our local Seqr instance at UW we are going to try to implement two VEP plugins for filtering annotations. We want to add these plugin options under the Annotations section in Variant Search, see rough screenshot attached or word doc. This is in reference to these tickets:
#2274
#2275
UTRAnnotator:
uAUGgain
uAUGlost
uSTOP lost
uSTOP gain
uFrameshift
Extended Splice Site:
SpliceDonor: splice_donor_5th_base_variant
SpliceDonor: splice_donor_region_variant
SpliceDonor: splice_polypyrimidine_tract_variant
SpliceDonor: extended_intronic_splice_region_variant_5prime
SpliceDonor: extended_intronic_splice_region_variant_3prime
For displaying in the Variant Results, we are less sure of the best move. We are thinking about adding any UTRAnnotator or Splice Region annotations to the end of the variant impact, or beneath it. (e.g. intron variant / uAUG gain OR intron variant / extended_intronic_splice_region_variant_5prime ) Would your team prefer us add the annotations where the in silico scores are? We didn't think that made as much biological sense, but it might collapse better and make the page fit. Looking forward to your feedback.
[SeqrSpec111623.docx](https://github.com/broadinstitute/seqr/files/13384349/SeqrSpec111623.docx)Beta Was this translation helpful? Give feedback.
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