PEDIA JSON format - PEDIA-Charite/PEDIA-workflow GitHub Wiki

JSON format

Please find the structure of the JSON format of each case in the dataset below. We only listed part of the data here, for the complete information, please check the original JSON file.

  {
      "case_id": 45254,
      "features": [
          "HP:0000316",
          "HP:0010541",
          "HP:0000729"
      ],
      "geneList": [
          {
              "gene_symbol": "ARID1B",
              "cadd_phred_score": 25,
              "syndrome_name": "Coffin-Siris Syndrome",
              "gestalt_score": 0.7211414282399627,
              "gene_omim_id": "614556",
              "has_mask": true,
              "feature_score": 0.8369029469,
              "pheno_score": 0.9977,
              "boqa_score": 0,
              "gene_id": "57492"
          },
          {
              "cadd_phred_score": 8.507,
              "syndrome_name": "Laron Syndrome",
              "gestalt_score": 0.026714321059580264,
              "gene_omim_id": "600946",
              "has_mask": true,
              "feature_score": 0,
              "pheno_score": 0,
              "boqa_score": 0,
              "gene_id": "2690"
          }
      ],
      "genomicData": [
          {
              "Mutations": {
                  "result": "VARIANTS_DETECTED",
                  "Build": "GRCh37",
                  "HGVS-code": "NM_020732.3:c.5737C>T",
                  "additional info": "",
                  "Inheritance Mode": ""
              },
              "Test Information": {
                  "Gene Name": "ARID1B",
                  "Gene ID": 57492,
                  "Genotype": "HETEROZYGOUS",
                  "Notation": "CDNA_LEVEL",
                  "Mutation Type": "TARGETED_TESTING",
                  "Molecular Test": "TARGETED_TESTING"
              }
          }
      ],
      "selected_syndromes": [
          {
              "has_mask": 0,
              "omim_id": 135900,
              "diagnosis": "MOLECULARLY_DIAGNOSED",
              "syndrome_name": "Coffin-Siris Syndrome1; CSS1"
          },
          {
              "has_mask": 1,
              "omim_id": [
                  614608,
                  614609,
                  616938,
                  135900,
                  614607
              ],
              "diagnosis": "MOLECULARLY_DIAGNOSED",
              "syndrome_name": "Coffin-Siris Syndrome"
          }
      ]
  }