FHIR IG analytics

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Source1

{
  "resourceType": "DiagnosticReport",
  "id": "mii-exa-molgen-befundbericht-comprehensive-wes",
  "meta": {
    "profile": [
      "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulargenetischer-befundbericht|2026.0.4",
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report|3.0.0"
    ]
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-reference",
      "valueReference": {
        "reference": "Procedure/mii-exa-molgen-genomic-study-comprehensive-wes"
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact",
      "valueRelatedArtifact": {
        "type": "documentation",
        "label": "GATK Best Practices for Germline SNP & Indel Discovery",
        "url": "https://gatk.broadinstitute.org/hc/en-us/articles/360035535932"
      }
    },
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report-note",
      "valueAnnotation": {
        "extension": [
          {
            "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/annotation-code",
            "valueCodeableConcept": {
              "text": "Quality Metrics"
            }
          }
        ],
        "text": "Mean coverage: 120X, 98.5% of bases >20X, 95.2% of target regions callable. Q30 bases: 92%. Contamination estimate: <1%. Sample identity confirmed by SNP fingerprinting."
      }
    }
  ],
  "basedOn": [
    {
      "reference": "ServiceRequest/mii-exa-molgen-anforderung-wes"
    }
  ],
  "status": "final",
  "category": [
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code": "GE",
          "display": "Genetics"
        }
      ]
    }
  ],
  "code": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "51969-4",
        "display": "Genetic analysis report"
      }
    ]
  },
  "subject": {
    "reference": "Patient/mii-exa-molgen-patient"
  },
  "performer": [
    {
      "reference": "Practitioner/mii-exa-molgen-practitioner-lab"
    }
  ],
  "specimen": [
    {
      "reference": "Specimen/mii-exa-molgen-specimen-blood-edta"
    }
  ],
  "result": [
    {
      "reference": "Observation/mii-exa-molgen-variante-comprehensive-pathogenic"
    },
    {
      "reference": "Observation/mii-exa-molgen-diagnostische-implikation-comprehensive"
    }
  ],
  "media": [
    {
      "comment": "Coverage plot showing uniform coverage across all exons",
      "link": {
        "reference": "Media/mii-exa-molgen-media-coverage-plot"
      }
    }
  ],
  "conclusion": "Whole exome sequencing identified a pathogenic de novo variant in the KMT2A gene, consistent with Wiedemann-Steiner syndrome. This explains the patient's developmental delay and dysmorphic features. Technical quality metrics met all acceptance criteria.",
  "conclusionCode": [
    {
      "coding": [
        {
          "system": "http://loinc.org",
          "code": "LA6576-8",
          "display": "Positive"
        }
      ]
    }
  ]
}