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