FHIR IG analytics| Package | pc.ig |
| Resource Type | Basic |
| Id | Basic-epigenome-study-example-1.json |
| FHIR Version | R4 |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
Generated Narrative: Basic epigenome-study-example-1
Profile: Epigenome Study
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
{
"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"
}
]
}
}