ClinGen / gene-and-variant-curation-tools

ClinGen's gene and variant curation interfaces (GCI & VCI). Developed by Stanford ClinGen team.
https://curation.clinicalgenome.org/
MIT License
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External Variant Evidence Sources Ingestion and Display ~ V1 #250

Open cgpreston opened 1 year ago

cgpreston commented 1 year ago

There is an overarching project to bring in data for VCI display via the LDH and create a general workflow allowing for evidence from various different external resources to be automatically displayed in the VCI when as as appropriate. When scoping and specifying this project we need to consider multiple exemplar resources, so that we can make sure this project will support multiple different types of data and have maximal utility.

This ticket is an initial proposal to specify and display external resources in an organized and lightweight fashion on the basic info tab of the VCI to notify users of availability of data for the variant in an external resource.

Scoping for this feature (provided by Deb/Christine):

  1. With the "Other Evidence Resources" table as a template, and as a first step to integration, a user could know from looking at the table in the Basic Information tab, the following for a variant under curation:

    1. If the variant is present in an external database
    2. If 1 is yes: A link to either the LDH (for further exploration) or directly to the variant data in the original database
    3. Display key evidence available. The format or specific items to display may change based on the dataset, but the row would be designed to hold some common elements from LDH datasets and minimize development of specific items for additional datasets.
      • This could be a non-V1 feature, a specific use case would need to be identified for additional specifications.
  2. Minimum needed information (core/common elements):

    1. CAR ID
    2. Resource name to be displayed in the VCI
    3. Link and details on link
      • language to use: a) if link/variant is present and b) if link/variant is not present
    4. Key evidence available and details (specifications for this will need to be made).
  3. Possibly target databases for this project (dependent upon LDH content)

    1. TOPMed
    2. MaveDB (note: only display the link, do NOT bring in additional data to the VCI for this resource)
    3. MSeqDR
    4. Decipher (gene content, but could be of relevance here)
    5. BioPKU
    6. CIViC
    7. gnomAD version 4
    8. Hypothes.is
    9. BRCA Exchange
    10. https://infevers.umai-montpellier.fr/web/

Replaces #62 , SP ticket: https://broadinstitute.atlassian.net/browse/CGSP-115

Current "Other Evidence Resources" table:

Screen Shot 2022-09-20 at 10 05 10 AM