FHIR IG analytics| Package | de.medizininformatikinitiative.kerndatensatz.molgen |
| Resource Type | Procedure |
| Id | Procedure-mii-exa-molgen-genomic-study-analysis-tso500-sequencing.json |
| FHIR Version | R4 |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
English
Generated Narrative: Procedure mii-exa-molgen-genomic-study-analysis-tso500-sequencing
Profiles: MII PR MolGen Genomic Study Analysis, https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1
Genomic Study Analysis Specimen: Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_tso500_ffpe_01; status = available; type = Formalin-fixed paraffin-embedded tissue specimen; receivedTime = 2024-05-16 09:20:00+0200
Genomic Study Analysis Device
Genomic Study Analysis Method Type: Sequencing
Genomic Study Analysis Metrics
- read-depth: 1000 reads (Details: UCUM code1 = '1')
- sequencing-coverage: 95 percent (Details: UCUM code% = '%')
- metrics-description: Mean target coverage 1000X; 95% der Zielregionen >250X; Q30 >90%; FFPE-bedingte Qualitätsfilter angewandt
status: Completed
category: Laboratory
subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))
German
Generated Narrative: Procedure mii-exa-molgen-genomic-study-analysis-tso500-sequencing
Profiles: MII PR MolGen Genomic Study Analysis, https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1
Genomic Study Analysis Specimen: Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_tso500_ffpe_01; status = available; type = Formalin-fixed paraffin-embedded tissue specimen; receivedTime = 2024-05-16 09:20:00+0200
Genomic Study Analysis Device
Genomic Study Analysis Method Type: Sequencing
Genomic Study Analysis Metrics
- read-depth: 1000 reads (Details: UCUM code1 = '1')
- sequencing-coverage: 95 percent (Details: UCUM code% = '%')
- metrics-description: Mean target coverage 1000X; 95% der Zielregionen >250X; Q30 >90%; FFPE-bedingte Qualitätsfilter angewandt
status: Completed
category: Laboratory
subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Krankenaktennummer (use: usual, ))
{
"resourceType": "Procedure",
"id": "mii-exa-molgen-genomic-study-analysis-tso500-sequencing",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-pr-molgen-genomic-study-analysis",
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1"
]
},
"text": {
"status": "extensions",
"div": "<!-- snip (see above) -->"
},
"extension": [
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen",
"valueReference": {
"reference": "Specimen/mii-exa-molgen-specimen-ffpe-tumor"
}
},
{
"extension": [
{
"url": "device",
"valueReference": {
"reference": "Device/mii-exa-molgen-device-illumina-novaseq"
}
}
],
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device"
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type",
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA26398-0",
"display": "Sequencing"
}
]
}
},
{
"extension": [
{
"url": "read-depth",
"valueQuantity": {
"value": 1000,
"unit": "reads",
"system": "http://unitsofmeasure.org",
"code": "1"
}
},
{
"url": "sequencing-coverage",
"valueQuantity": {
"value": 95,
"unit": "percent",
"system": "http://unitsofmeasure.org",
"code": "%"
}
},
{
"url": "metrics-description",
"valueString": "Mean target coverage 1000X; 95% der Zielregionen >250X; Q30 >90%; FFPE-bedingte Qualitätsfilter angewandt"
}
],
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-metrics"
}
],
"status": "completed",
"category": {
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/observation-category",
"code": "laboratory"
}
]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient"
}
}