GenomicStudy - FHIR v5.0.0-ballot

Release 5 Ballot

This page is part of the FHIR Specification (v5.0.0-ballot: FHIR R5 Ballot Preview). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions

10.4.6 Resource GenomicStudy - Examples

Clinical Genomics

Work Group

Maturity Level: N/A

Standards Status: Informative

Security Category: Patient

Compartments: 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.