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iobio / gene.iobio

Gene.iobio vue
MIT License
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Annotate with gnomAD v4, AlphaMisense #1059

Open tonydisera opened 3 months ago

tonydisera commented 1 month ago

This requires changes to iobio-gru-backend:

  1. We will have 2 new endpoints annotateVariantsV3 and freebayesJointCall
  2. This expanded vcfanno will require significant changes to the gru_data directory: a. new directory 
     vcfanno/  (new directory)
      custom.lua
      GRCh37/
        annotate_variants.toml
        alphamissense/
        cadd/
        clinvar/
        eve/
        gnomad/
        mutscore/
     GRCh38/
       annotate_variants.toml
       alphamissense/
       cadd/
       clinvar/
       eve/
       gnomad/
       mutscore/
gnomad/ (remove once gene.iobio 4.11 has been released and stable)