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Packagepc.ig
Resource TypeBasic
IdBasic-epigenome-study-example-1.json
FHIR VersionR4

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Narrative

Note: links and images are rebased to the (stated) source

Generated Narrative: Basic epigenome-study-example-1

Genomic test ID relationship: Basic Exome sequencing

Bisulfite reference kit: EZ DNA Methylation-Gold Kit

Bisulfite date: 2025-01-10

Age at DNA extraction: 45

Array date: 2025-01-12

SNP reader device: iScan System

Sample type: Blood

Pool ID: POOL-01

Sample ID: SAMPLE-123

Sentrix barcode array: 203456789012

Sentrix position: R01C01

Chip type: Infinium MethylationEPIC BeadChip

Manifest number: METH-EPIC-201

Scan date: 2025-01-13

Raw data: gs://bucket/methylation/ES0001/idat/

Target disease ID: OMIM:123456

identifier: https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/NamingSystem/epigenome-study-id/ES0001

code: Methylation array epigenome study


Source1

{
  "resourceType": "Basic",
  "id": "epigenome-study-example-1",
  "meta": {
    "profile": [
      "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study"
    ]
  },
  "text": {
    "status": "extensions",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-genomic-test-ref",
      "valueReference": {
        "reference": "Basic/genomic-test-example-1"
      }
    },
    {
      "url": "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-bisulfite-reference-kit",
      "valueString": "EZ DNA Methylation-Gold Kit"
    },
    {
      "url": "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-bisulfite-date",
      "valueDate": "2025-01-10"
    },
    {
      "url": "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-age-at-dna-extraction",
      "valueDecimal": 45
    },
    {
      "url": "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-array-date",
      "valueDate": "2025-01-12"
    },
    {
      "url": "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-snp-reader-device",
      "valueString": "iScan System"
    },
    {
      "url": "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-sample-type",
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/CodeSystem/biosample-tissue-type",
            "code": "blood",
            "display": "Blood"
          }
        ]
      }
    },
    {
      "url": "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-pool-id",
      "valueString": "POOL-01"
    },
    {
      "url": "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-sample-id",
      "valueString": "SAMPLE-123"
    },
    {
      "url": "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-sentrix-barcodearray",
      "valueString": "203456789012"
    },
    {
      "url": "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-sentrix-position",
      "valueString": "R01C01"
    },
    {
      "url": "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-chip-type",
      "valueString": "Infinium MethylationEPIC BeadChip"
    },
    {
      "url": "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-manifest-number",
      "valueString": "METH-EPIC-201"
    },
    {
      "url": "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-scan-date",
      "valueDate": "2025-01-13"
    },
    {
      "url": "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-raw-data",
      "valueString": "gs://bucket/methylation/ES0001/idat/"
    },
    {
      "url": "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/epigenome-study-target-disease-id",
      "valueString": "OMIM:123456"
    }
  ],
  "identifier": [
    {
      "system": "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/NamingSystem/epigenome-study-id",
      "value": "ES0001"
    }
  ],
  "code": {
    "coding": [
      {
        "system": "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/CodeSystem/epigenome-study-type",
        "code": "array",
        "display": "Methylation array epigenome study"
      }
    ]
  }
}