[x] Add a dedicated link to ProtVar at the top (https://www.ebi.ac.uk/ProtVar) @gjmcn
Luca has built the logic to create ProtVar links for missense variants in ClinVar and Open Targets Genetics widgets - see this ticket for all historical info
Relevant to Missense variants (like the one in sharing link):
[ ] As a user, I immediately want to know what gene this is in and predicted missense for (i.e. Pro>Ser for this example), with a link to the target page at the top of the page
[ ] also want to see the coordinates within the protein i.e. what is the amino acid change
NOTE by AB: this will all be included in the V2G/VEP widget
[ ] For the ClinVar, Uniprot, and pharmacogenetics widgets the context of what target it is needs to be included as otherwise there is no context (e.g. the ‘direct drug target’ is confusing because you don’t know what target it is)
NOTE by AB: discussed with data team, we should probably remove the direct drug target column from the variant page PGx widget to avoid confusions and wrong assessments @gjmcn
[ ] We should think about a data widget for Variant to Function that would provide impact on stability, protein-protein interactions and binding pockets (from OTAR2081 data and ProtVar)
NOTE by AB we discussed different version of the "functional genomics" widget.
A "QTL credible set" seems a good one to have quite high in the queue.
Variant page feedback points from EMD (from discussion with Carlos):
[x] Ensembl link at the top of page: is it possible to take the user directly to the variant page instead of the search result/ @gjmcn for the variant in example link - 20_31257670_C_T/rs191451885 - the link is https://www.ensembl.org/Homo_sapiens/Variation/Explore?r=20:31257170-31258170;v=rs191451885;vdb=variation;vf=1055615053
[x] Add a dedicated link to ProtVar at the top (https://www.ebi.ac.uk/ProtVar) @gjmcn Luca has built the logic to create ProtVar links for missense variants in ClinVar and Open Targets Genetics widgets - see this ticket for all historical info
Relevant to Missense variants (like the one in sharing link):
[ ] As a user, I immediately want to know what gene this is in and predicted missense for (i.e. Pro>Ser for this example), with a link to the target page at the top of the page
[ ] also want to see the coordinates within the protein i.e. what is the amino acid change NOTE by AB: this will all be included in the V2G/VEP widget
[ ] For the ClinVar, Uniprot, and pharmacogenetics widgets the context of what target it is needs to be included as otherwise there is no context (e.g. the ‘direct drug target’ is confusing because you don’t know what target it is) NOTE by AB: discussed with data team, we should probably remove the
direct drug target
column from the variant page PGx widget to avoid confusions and wrong assessments @gjmcn[ ] We should think about a data widget for Variant to Function that would provide impact on stability, protein-protein interactions and binding pockets (from OTAR2081 data and ProtVar) NOTE by AB we discussed different version of the "functional genomics" widget. A "QTL credible set" seems a good one to have quite high in the queue.
[ ] PharmGKB have quite a nice visual for allele frequencies from different resources: https://www.pharmgkb.org/variant/PA166175994