FHIR IG analytics

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Narrative

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Source1

{
  "resourceType": "Procedure",
  "id": "genomicstudyanalysis-trio2",
  "meta": {
    "profile": [
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis"
    ]
  },
  "text": {
    "status": "extensions",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build",
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "LA26806-2",
            "display": "GRCh38"
          }
        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-focus",
      "valueReference": {
        "reference": "Patient/denovoFather"
      }
    },
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-focus",
      "valueReference": {
        "reference": "Patient/denovoMother"
      }
    },
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-title",
      "valueString": "Parental Sequence Variation Detection Using Next Generation Sequencing"
    },
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-protocol-performed",
      "valueReference": {
        "reference": "Procedure/SequencingProcedure"
      }
    },
    {
      "extension": [
        {
          "url": "file",
          "valueReference": {
            "reference": "DocumentReference/genomicFileProbandBAM"
          }
        },
        {
          "url": "type",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-data-format-cs",
                "code": "bam",
                "display": "BAM"
              }
            ]
          }
        }
      ],
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-input"
    },
    {
      "extension": [
        {
          "url": "file",
          "valueReference": {
            "reference": "DocumentReference/genomicFileMotherBAM"
          }
        },
        {
          "url": "type",
          "valueCodeableConcept": {
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              {
                "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-data-format-cs",
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                "display": "BAM"
              }
            ]
          }
        }
      ],
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-input"
    },
    {
      "extension": [
        {
          "url": "file",
          "valueReference": {
            "reference": "DocumentReference/genomicFileFatherBAM"
          }
        },
        {
          "url": "type",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-data-format-cs",
                "code": "bam",
                "display": "BAM"
              }
            ]
          }
        }
      ],
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-input"
    },
    {
      "extension": [
        {
          "url": "file",
          "valueReference": {
            "reference": "DocumentReference/genomicFileProbandVCF"
          }
        },
        {
          "url": "type",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-data-format-cs",
                "code": "vcf",
                "display": "VCF"
              }
            ]
          }
        }
      ],
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output"
    }
  ],
  "instantiatesUri": [
    "https://pubmed.ncbi.nlm.nih.gov/33927380/"
  ],
  "status": "completed",
  "category": {
    "coding": [
      {
        "system": "http://terminology.hl7.org/CodeSystem/observation-category",
        "code": "laboratory"
      }
    ]
  },
  "subject": {
    "reference": "Patient/denovoChild"
  },
  "performedDateTime": "2023-10-01"
}