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[Platform]: Variant page review #524

Merged
merged 60 commits into from
Nov 8, 2024
Merged

[Platform]: Variant page review #524

merged 60 commits into from
Nov 8, 2024

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chinmehta
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@chinmehta chinmehta commented Nov 7, 2024

[Platform]: Variant page review

Description

  • Widget order
  • Compress Aminoacid change + Coding Change + Uniprot accession columns. When aminoacid change is not NA show within the predicted consequence column: missense variant [R121Q]^? Tooltip: Uniprot accession: [P19438](Link to uniprot using identifiers.org)
  • Confidence (star system)
  • Enhance [view] button UI. Title "View" and chavron?
  • LD column? Drop
  • Top L2G - (update to match the API )
  • L2G score (continuous filled bar)
  • Allow sorting by numeric columns (incl. posterior probability) (default p-value)
  • Affected tissue/cell: to show actual tissue label (not the ID) (e.g. blood plasma)
  • molQTL source : Source [Open Targets](link to Open targets homepage)

Issue: opentargets/issues#3601 , opentargets/issues#3616
Deploy preview: https://deploy-preview-524--ot-platform-partner.netlify.app/

Type of change

  • New feature (non-breaking change which adds functionality)

How Has This Been Tested?

Please describe the tests that you ran to verify your changes. Provide instructions so we can reproduce.

  • Test A
  • Test B

Checklist:

  • I have commented my code, particularly in hard-to-understand areas
  • My changes generate no new warnings
  • I have made corresponding changes to the documentation

carcruz and others added 30 commits July 22, 2024 22:19
* [Platform] Add Profile and ProfileHeader to variant page (#376)

* [Platform]: variant page widgets init (#380)

* draft pharmacokinetics widget (#383)

* move reported protein link to description (#381)

* [Platform] Add GWAS credible sets widget to variant page (#390)

* [Platform] Add QTL credible sets widget to variant page (#396)

* [Platform] Add Uniprot id to Uniprot description link (#401)

* [Platform] Add allele frequency plot to variant page metadata section (#403)

* frequency vis examples

* polish plots

* allele frequency bars

* use flex for allele frequency plot

* do not import grid

* [Platform] Clean up variant page sections and summaries (#404)

* [Platform] Update variant page QTL credible sets widget (#406)

* [Platform] Use API for variant page header (#412)

* [Platform] Correct dbXref link in variant page header (#414)

* [Platform] Fix clinvar dbXref (#417)

* [Platform] Use API for metadata in variant page (#420)
* [Platform] Add Profile and ProfileHeader to variant page (#376)

* [Platform]: variant page widgets init (#380)

* draft pharmacokinetics widget (#383)

* move reported protein link to description (#381)

* [Platform] Add GWAS credible sets widget to variant page (#390)

* [Platform] Add QTL credible sets widget to variant page (#396)

* [Platform] Add Uniprot id to Uniprot description link (#401)

* [Platform] Add allele frequency plot to variant page metadata section (#403)

* [Platform] Clean up variant page sections and summaries (#404)

* [Platform] Update variant page QTL credible sets widget (#406)

* [Platform] Use API for variant page header (#412)

* [Platform] Correct dbXref link in variant page header (#414)

* [Platform] Fix clinvar dbXref (#417)

* [Platform] Use API for metadata in variant page (#420)

* [Platform] Use API data for in silico predictors widget on variant page (#424)


Co-authored-by: Carlos Cruz <[email protected]>

* [Platform] Minor improvements to variant page insilico predictors widget (#429)

* [Platform] Add VEP widget to variant page (#428)
* shorten variant ids in widget descriptions

* avoid DOM nesting warnings
* add study table to study page

* fix queries and fill in body

* finish body

* finish draft

* column heading

* link and column updates
* adapt allele frequency plot to order of magnitude

* increase fixed width of right plot column
* add tooltips to posterior probability and r2 columns

* study ID column labels
* include variants in search

* update queries

* comment VariantResults

* include variants in search results page

* add variant details

* update info shown in search suggestions and results

* make rsIds checks boolean

* remove console.log

* use divs to avoid MUI DOM nesting error

* clean up variant search
@d0choa
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d0choa commented Nov 8, 2024

Some feedback. Feel free to decide what goes here and what goes in future PRs. There is a benefit on merging this the moment there is a favourable technical review, as it has a lot of good things and rescues the credible set widgets

  • Widget order -> Great
  • Compress Aminoacid change + Coding Change + Uniprot accession columns - Changes look great but there is one thing missing. If the Amino acid change column is non-NA we want to place the label in the predicted consequence column. E.g. missense variant R121Q [cGg/cAg]? in this variant page. After this change, you can drop the Amino acid change column and it will remove a lot of useless N/As.
  • Confidence (star system) - Works perfectly. Can we allow sorting by this column?
  • Enhance [view] button UI. I guess this is WIP?
  • LD column? Done
  • Top L2G - (update to match the API ) - Works well - It's possible that the top L2G is N/A in some cases. Make sure you handle that.
  • L2G score (continuous filled bar) - I like the UI. We could add a color gradient if we feel we need it. Great for now.
  • Allow sorting by numeric columns (incl. posterior probability) (default p-value) - Beta in the molQTL widget is missing.
  • Affected tissue/cell: to show actual tissue label (not the ID) (e.g. blood plasma)
  • molQTL source : Source [Open Targets](link to Open targets homepage)

Remember to add the condition to the molQTL table. It's a very easy change.

      study {
        studyId
        studyType
        target {
          id
          approvedSymbol
        }
        biosample {
          biosampleId
          biosampleName
        }
        condition
      }

Also look at the sorting of the VEP widget which was originally missing from the spec

@d0choa
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d0choa commented Nov 8, 2024

There is a bug in the VEP widget:
image

The Distance to Footprint column is incorrectly showing N/A when values are 0.

Example page:
https://deploy-preview-524--ot-platform-partner.netlify.app/variant/12_6333477_C_T

        {
          "variantConsequences": [
            {
              "id": "SO:0001627",
              "label": "intron_variant"
            }
          ],
          "aminoAcidChange": null,
          "uniprotAccessions": [
            "P08887",
            "A0N0L5"
          ],
          "codons": null,
          "distanceFromFootprint": 0,
          "distanceFromTss": 48445,
          "target": {
            "id": "ENSG00000160712",
            "approvedSymbol": "IL6R"
          },
          "impact": "MODIFIER",
          "consequenceScore": 0.10000000149011612,
          "transcriptIndex": 1,
          "transcriptId": "ENST00000368485",
          "lofteePrediction": null,
          "siftPrediction": null,
          "polyphenPrediction": null
        }

Let me know if this is a more widespread issue and we can open a ticket for it

@carcruz carcruz merged commit 13cc62c into main Nov 8, 2024
11 checks passed
@carcruz carcruz deleted the cm-variant-ux branch November 8, 2024 17:11
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4 participants