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Variant Level Clinical Page #284

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bencap opened this issue Oct 1, 2024 · 0 comments
Open
8 tasks

Variant Level Clinical Page #284

bencap opened this issue Oct 1, 2024 · 0 comments
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app: backend Task implementation touches the backend app: frontend Task implementation touches the frontend type: discussion Team discussion required type: feature New feature workstream: clinical Task relates to clinical features workstream: pillar Task relates to pillar project

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@bencap
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bencap commented Oct 1, 2024

To support clinical users, we should add a variant level clinical page that summarizes the information MaveDB contains about a particular variant. At a minimum, this page should contain:

  • HGVS Identifiers and information about the containing gene/region
  • Other variant identifiers (RS ID, ClinGen Allele ID, ClinVar ID)
  • Variant molecular consequence (missense, synonomous, canonical splice, etc.).
  • Functional consequence
  • Histogram with known ClinVar controls with current variant annotated clearly
  • Tag canonical splicing variants and/or syn/missense variants with high splice AI scores

Although not required, it might be nice to:

  • Odds path translated to an ACMG code
  • Links to other useful websites for this variant (ClinVar, UCSC, GNomad, etc.)

We should furthermore implement a distinct variant measurement page, which contains all data for a variant within a single score set displayed on a single page.

@bencap bencap added app: backend Task implementation touches the backend app: frontend Task implementation touches the frontend type: discussion Team discussion required type: feature New feature workstream: clinical Task relates to clinical features workstream: pillar Task relates to pillar project labels Oct 1, 2024
@bencap bencap added this to the Pillar Project milestone Oct 1, 2024
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Labels
app: backend Task implementation touches the backend app: frontend Task implementation touches the frontend type: discussion Team discussion required type: feature New feature workstream: clinical Task relates to clinical features workstream: pillar Task relates to pillar project
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