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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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REVEL data needs from LDH for the VCI #354

Open cgpreston opened 5 months ago

cgpreston commented 5 months ago

For the REVEL data, the VCI needs:

  1. To request REVEL data via the LDH API using a variant ID
  2. Get a response that includes:
    • The CAR variant ID
    • The REVEL score(s)
    • An explicit mapping of score to their related Ensembl Transcript(s)
    • An explicit mapping of the transcripts and their MANE status (MANE select, or MANE clinical plus or None)

This related to the following tickets: #350, #348

cgpreston commented 5 months ago

Hi @ldh-admin, can we assign this to you?

ldh-admin commented 5 months ago

Yeah :)