Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
GenomicStudy | TU | DomainResource | Genomic Study Elements defined in Ancestors: id, meta, implicitRules, language, text, contained, extension, modifierExtension | |
identifier | Σ | 0..* | Identifier | Identifiers for this genomic study |
status | ?!Σ | 1..1 | code | registered | available | cancelled | entered-in-error | unknown Binding: Genomic Study Status (Required) |
type | Σ | 0..* | CodeableConcept | The type of the study (e.g., Familial variant segregation, Functional variation detection, or Gene expression profiling) Binding: Genomic Study Type (Example) |
subject | Σ | 1..1 | Reference(Patient | Group | Substance | BiologicallyDerivedProduct | NutritionProduct) | The primary subject of the genomic study |
encounter | Σ | 0..1 | Reference(Encounter) | The healthcare event with which this genomics study is associated |
startDate | 0..1 | dateTime | When the genomic study was started | |
basedOn | 0..* | Reference(ServiceRequest | Task) | Event resources that the genomic study is based on | |
referrer | 0..1 | Reference(Practitioner | PractitionerRole) | Healthcare professional who requested or referred the genomic study | |
interpreter | 0..* | Reference(Practitioner | PractitionerRole) | Healthcare professionals who interpreted the genomic study | |
reason | 0..* | CodeableReference(Condition | Observation) | Why the genomic study was performed | |
instantiatesCanonical | 0..1 | canonical(PlanDefinition) | The defined protocol that describes the study | |
instantiatesUri | 0..1 | uri | The URL pointing to an externally maintained protocol that describes the study | |
note | 0..* | Annotation | Comments related to the genomic study | |
description | 0..1 | markdown | Description of the genomic study | |
analysis | 0..* | BackboneElement | Genomic Analysis Event | |
identifier | Σ | 0..* | Identifier | Identifiers for the analysis event |
methodType | Σ | 0..* | CodeableConcept | Type of the methods used in the analysis (e.g., FISH, Karyotyping, MSI) Binding: Genomic Study Method Type (Example) |
changeType | 0..* | CodeableConcept | Type of the genomic changes studied in the analysis (e.g., DNA, RNA, or AA change) Binding: Genomic Study Change Type (Example) | |
genomeBuild | 0..1 | CodeableConcept | Genome build that is used in this analysis Binding: HumanRefSeqNCBIBuildId (Extensible) | |
instantiatesCanonical | 0..1 | canonical(PlanDefinition | ActivityDefinition) | The defined protocol that describes the analysis | |
instantiatesUri | 0..1 | uri | The URL pointing to an externally maintained protocol that describes the analysis | |
title | Σ | 0..1 | string | Name of the analysis event (human friendly) |
focus | Σ | 0..* | Reference(Any) | What the genomic analysis is about, when it is not about the subject of record |
specimen | Σ | 0..* | Reference(Specimen) | The specimen used in the analysis event |
date | 0..1 | dateTime | The date of the analysis event | |
note | 0..* | Annotation | Any notes capture with the analysis event | |
protocolPerformed | 0..1 | Reference(Procedure | Task) | The protocol that was performed for the analysis event | |
regionsStudied | 0..* | Reference(DocumentReference | Observation) | The genomic regions to be studied in the analysis (BED file) | |
regionsCalled | 0..* | Reference(DocumentReference | Observation) | Genomic regions actually called in the analysis event (BED file) | |
input | 0..* | BackboneElement | Inputs for the analysis event | |
file | Σ | 0..1 | Reference(DocumentReference) | File containing input data |
type | 0..1 | CodeableConcept | Type of input data (e.g., BAM, CRAM, or FASTA) Binding: Genomic Study Data Format (Example) | |
generatedBy[x] | 0..1 | The analysis event or other GenomicStudy that generated this input file | ||
generatedByIdentifier | Identifier | |||
generatedByReference | Reference(GenomicStudy) | |||
output | 0..* | BackboneElement | Outputs for the analysis event | |
file | Σ | 0..1 | Reference(DocumentReference) | File containing output data |
type | Σ | 0..1 | CodeableConcept | Type of output data (e.g., VCF, MAF, or BAM) Binding: Genomic Study Data Format (Example) |
performer | 0..* | BackboneElement | Performer for the analysis event | |
actor | 0..1 | Reference(Practitioner | PractitionerRole | Organization | Device) | The organization, healthcare professional, or others who participated in performing this analysis | |
role | 0..1 | CodeableConcept | Role of the actor for this analysis | |
device | 0..* | BackboneElement | Devices used for the analysis (e.g., instruments, software), with settings and parameters | |
device | 0..1 | Reference(Device) | Device used for the analysis | |
function | 0..1 | CodeableConcept | Specific function for the device used for the analysis | |
Documentation for this format |