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monarch-initiative / genophenocorr

Genotype Phenotype Correlation
https://monarch-initiative.github.io/genophenocorr/stable
MIT License
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structural variant #156

Open pnrobinson opened 1 month ago

pnrobinson commented 1 month ago

We need to be able to capture structural variants like this:


"genomicInterpretations": [
          {
            "subjectOrBiosampleId": "Novara, 2017_P2",
            "interpretationStatus": "CAUSATIVE",
            "variantInterpretation": {
              "variationDescriptor": {
                "id": "var_CfJFBoIyXKVNhexFdqINaqtzT",
                "label": "16q24.2-q24.3 (87340135_89335428)x1",
                "geneContext": {
                  "valueId": "HGNC:21316",
                  "symbol": "ANKRD11"
                },
                "moleculeContext": "genomic",
                "structuralType": {
                  "id": "SO:1000029",
                  "label": "chromosomal_deletion"
                },
                "allelicState": {
                  "id": "GENO:0000135",
                  "label": "heterozygous"
                }
              }
            }
          }