http://hl7.org/fhir/StructureDefinition/GenomicStudy|5.0.0
A set of analyses performed to analyze and generate genomic data.
| Name | Flags | Card | Type | Description & Constraints |
|---|---|---|---|---|
GenomicStudy | 0..* | Genomic Study | ||
Σ | 0..* | Identifier | Identifiers for this genomic study | |
?!Σ | 1..1 | code | registered | available | cancelled | entered-in-error | unknown GenomicStudyStatus (required) | |
Σ | 0..* | CodeableConcept | The type of the study (e.g., Familial variant segregation, Functional variation detection, or Gene expression profiling) GenomicStudyType (example) | |
Σ | 1..1 | Reference | The primary subject of the genomic study | |
Σ | 0..1 | Reference | The healthcare event with which this genomics study is associated | |
| 0..1 | dateTime | When the genomic study was started | ||
| 0..* | Reference | Event resources that the genomic study is based on | ||
| 0..1 | Reference | Healthcare professional who requested or referred the genomic study | ||
| 0..* | Reference | Healthcare professionals who interpreted the genomic study | ||
| 0..* | CodeableReference | Why the genomic study was performed | ||
| 0..1 | canonical | 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) GenomicStudyMethodType (example) | |
| 0..* | CodeableConcept | Type of the genomic changes studied in the analysis (e.g., DNA, RNA, or AA change) GenomicStudyChangeType (example) | ||
| 0..1 | CodeableConcept | Genome build that is used in this analysis HumanRefSeqNCBIBuildId (extensible) | ||
| 0..1 | canonical | 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 | What the genomic analysis is about, when it is not about the subject of record | |
Σ | 0..* | Reference | 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 | The protocol that was performed for the analysis event | ||
| 0..* | Reference | The genomic regions to be studied in the analysis (BED file) | ||
| 0..* | Reference | Genomic regions actually called in the analysis event (BED file) | ||
| 0..* | BackboneElement | Inputs for the analysis event | ||
Σ | 0..1 | Reference | File containing input data | |
| 0..1 | CodeableConcept | Type of input data (e.g., BAM, CRAM, or FASTA) GenomicStudyDataFormat (example) | ||
| 0..1 | The analysis event or other GenomicStudy that generated this input file | |||
| 0..1 | Identifier | |||
| 0..1 | Reference | |||
| 0..* | BackboneElement | Outputs for the analysis event | ||
Σ | 0..1 | Reference | File containing output data | |
Σ | 0..1 | CodeableConcept | Type of output data (e.g., VCF, MAF, or BAM) GenomicStudyDataFormat (example) | |
| 0..* | BackboneElement | Performer for the analysis event | ||
| 0..1 | Reference | 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 used for the analysis | ||
| 0..1 | CodeableConcept | Specific function for the device used for the analysis |