Skip to content

ModelGenotype

For human data, we are using the GA4GH Variation Representation Specification (VRS). However, mouse data often use symbolic representations of variants that are not immediately computable, for instance.

{
  "count": 1,
  "komp_genotypes": [
    {
      "genesymbol": "Slc1a3",
      "genotype_id": 1855703,
      "genotypedescription": "Slc1a3<tm1.1(KOMP)Mbp> -/+",
      "genotypesymbol": "-/+",
      "jr": 18557,
      "latest_pheno": "2013-04-05",
      "strainstatus": "KOMP Complete"
    }
  ]
}

Question -- should we also support HGVS-style variants with the VRS framework?