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10.4.6 Resource GenomicStudy - Examples

Clinical Genomics icon Work GroupMaturity Level: N/AStandards Status: InformativeSecurity Category: Patient Compartments: Group, Patient

Example Name id Format
GenomicStudy - Trio study - De novo mutation 1 example XML JSON Turtle
GenomicStudy - Trio study - De novo mutation 2 example-trio2 XML JSON Turtle
GenomicStudy - Lung mass - sequencing analysis example-lungMass XML JSON Turtle
DocumentReference - CNV Analysis - called CNVAnalysis-called XML JSON Turtle
DocumentReference - Genomic BED File genomicBEDfile XML JSON Turtle
DocumentReference - Genomic File 1 genomicFile1 XML JSON Turtle
DocumentReference - Genomic File 2 genomicFile2 XML JSON Turtle
DocumentReference - Genomic File 3 genomicFile3 XML JSON Turtle
DocumentReference - Genomic File 4 genomicFile4 XML JSON Turtle
DocumentReference - Genomic VCF File - CNV genomicVCFfile-cnv XML JSON Turtle
DocumentReference - Genomic VCF File - Simple genomicVCFfile-simple XML JSON Turtle
DocumentReference - Genomic VCF File genomicVCFfile XML JSON Turtle
DocumentReference - Simple Variant Analysis - Called SimpleVariantAnalysis-called XML JSON Turtle
DocumentReference - WES Full Sequenced Region - GRCh38 WES-FullSequencedRegion-GRCh38 XML JSON Turtle
DocumentReference - Genomic File of a Proband genomicFileProband XML JSON Turtle
DocumentReference - Genomic File of a Mother genomicFileMother XML JSON Turtle
DocumentReference - Genomic File of a Father genomicFileFather XML JSON Turtle
DocumentReference - Genomic File of a Trio: proband, mother, and father genomicFileGroupAsSubject XML JSON Turtle
Device - NGS Device NGS-device XML JSON Turtle
Device - Triodenovo (Software) Triodenovo-SW XML JSON Turtle
Encounter - denovo denovoEncounter XML JSON Turtle
Encounter - genomic genomicEncounter XML JSON Turtle
Group - A group of a trio study including proband, mother, and father groupDenovoFamily XML JSON Turtle
Patient - denovoChild denovoChild XML JSON Turtle
Patient - denovoFather denovoFather XML JSON Turtle
Patient - denovoMother denovoMother XML JSON Turtle
Patient - Genomic genomicPatient XML JSON Turtle
Practitioner - Example 1 practitioner01 XML JSON Turtle
Practitioner - Example 2 practitioner02 XML JSON Turtle
RelatedPerson - a proband's mother relatedPersonDenovoMother XML JSON Turtle
RelatedPerson - a proband's father relatedPersonDenovoFather XML JSON Turtle
ServiceRequest - Genomic Example genomicServiceRequest XML JSON Turtle
ServiceRequest - Genomic Example 2 genomicServiceRequest2 XML JSON Turtle
ServiceRequest - Genomic Example 3 genomicServiceRequest3 XML JSON Turtle
ServiceRequest - Genomic Example 4 genomicServiceRequest4 XML JSON Turtle
ServiceRequest - Genomic service request that references a proband as a subject genomicSRProband XML JSON Turtle
ServiceRequest - Genomic service request that references a proband's mother as a subject genomicSRMother XML JSON Turtle
ServiceRequest - Genomic service request that references a proband's father as a subject genomicSRFather XML JSON Turtle
Specimen - Denovo 1 denovo-1 XML JSON Turtle
Specimen - Denovo 2 denovo-2 XML JSON Turtle
Specimen - Denovo 3 denovo-3 XML JSON Turtle
Specimen of a Proband as a subject specimenProband XML JSON Turtle
Specimen of a proband's mother as a subject specimenMother XML JSON Turtle
Specimen of a proband's father as a subject specimenFather XML JSON Turtle
Specimen - Genomic genomicSpecimen XML JSON Turtle
 

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.