GenomicStudy - Trio study - De novo mutation 1

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    "value" : "urn:uuid:1111-1111-1111-1111"
  }],
  "status" : "unknown",
  "type" : [{
    "coding" : [{
      "system" : "http://hl7.org/fhir/genomicstudy-type",
      "code" : "fam-var-segr",
      "display" : "Familial variant segregation"
    }]
  }],
  "subject" : {
    "reference" : "Patient/denovoChild"
  },
  "encounter" : {
    "reference" : "Encounter/denovoEncounter"
  },
  "startDate" : "2021-01-01",
  "basedOn" : [{
    "reference" : "ServiceRequest/genomicServiceRequest"
  }],
  "referrer" : {
    "reference" : "Practitioner/practitioner01"
  },
  "interpreter" : [{
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  "reason" : [{
    "concept" : {
      "coding" : [{
        "system" : "http://snomed.info/sct",
        "code" : "267431006",
        "display" : "Disorder of lipid metabolism (disorder)"
      }]
    }
  }],
  "note" : [{
    "text" : "This de novo mutation is urgent and important for establishing the treatment plan."
  }],
  "description" : "De novo mutation study of the patient.",
  "analysis" : [{
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    }],
    "instantiatesUri" : "https://pubmed.ncbi.nlm.nih.gov/33927380/",
    "title" : "Proband Sequence Variation Detection Using Next Generation Sequencing",
    "specimen" : [{
      "reference" : "Specimen/denovo-1"
    }],
    "date" : "2021-01-01T01:01:10-06:00",
    "note" : [{
      "text" : "This is a next generation sequencing analysis of a proband."
    }],
    "input" : [{
      "file" : {
        "reference" : "DocumentReference/genomicFile1"
      },
      "type" : {
        "coding" : [{
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          "display" : "VCF"
        }]
      }
    }],
    "performer" : [{
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      },
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    }],
    "device" : [{
      "device" : {
        "reference" : "Device/NGS-device"
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          "display" : "Next Generation Sequencing"
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  },
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      "value" : "urn:uuid:1111-1111-1111-1112"
    }],
    "instantiatesUri" : "https://pubmed.ncbi.nlm.nih.gov/33927380/",
    "title" : "Maternal Sequence Variation Detection Using Next Generation Sequencing",
    "focus" : [{
      "reference" : "Patient/denovoMother"
    }],
    "specimen" : [{
      "reference" : "Specimen/denovo-2"
    }],
    "date" : "2021-01-01T01:01:10-06:00",
    "note" : [{
      "text" : "This is a next generation sequencing analysis of a mother of a proband."
    }],
    "input" : [{
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    }],
    "performer" : [{
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      "value" : "urn:uuid:1111-1111-1111-1113"
    }],
    "instantiatesUri" : "https://pubmed.ncbi.nlm.nih.gov/33927380/",
    "title" : "Paternal Sequence Variation Detection Using Next Generation Sequencing",
    "focus" : [{
      "reference" : "Patient/denovoFather"
    }],
    "specimen" : [{
      "reference" : "Specimen/denovo-3"
    }],
    "date" : "2021-01-01T01:01:10-06:00",
    "note" : [{
      "text" : "This is a next generation sequencing analysis of a father of a proband."
    }],
    "input" : [{
      "file" : {
        "reference" : "DocumentReference/genomicFile3"
      },
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      "value" : "urn:uuid:1111-1111-1111-1114"
    }],
    "instantiatesUri" : "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885382/",
    "title" : "De Novo Mutation Detection and Interpretation",
    "date" : "2021-01-01T03:01:10-06:00",
    "note" : [{
      "text" : "This is a next generation sequencing analysis of the comparison analysis of proband and parents sequences."
    }],
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      "file" : {
        "reference" : "DocumentReference/genomicFile1"
      },
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    "device" : [{
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        "reference" : "Device/Triodenovo-SW"
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}