Is Modifier: true (Reason: This element is labeled as a modifier because it is a status element that contains status entered-in-error which means that the resource should not be treated as valid)

Mappings: workflow=Event.status; w5=FiveWs.status; v2=Varies by domain; rim=.status

GenomicStudy.type

The type of the study (e.g., Familial variant segregation, Functional variation detection, or Gene expression profiling)

Definition: The type of the study, e.g., Familial variant segregation, Functional variation detection, or Gene expression profiling.

Cardinality: 0..*

Type: CodeableConcept

Binding: example:genomicstudy-type

Summary: true

GenomicStudy.subject

The primary subject of the genomic study

Definition: The primary subject of the genomic study.

Cardinality: 1..1

Type: Reference(Patient, Group, Substance, BiologicallyDerivedProduct, NutritionProduct)

Summary: true

GenomicStudy.encounter

The healthcare event with which this genomics study is associated

Definition: The healthcare event with which this genomics study is associated.

Cardinality: 0..1

Type: Reference(Encounter)

Summary: true

GenomicStudy.startDate

When the genomic study was started

Definition: When the genomic study was started.

Cardinality: 0..1

Type: dateTime

GenomicStudy.basedOn

Event resources that the genomic study is based on

Definition: Event resources that the genomic study is based on.

Cardinality: 0..*

Type: Reference(ServiceRequest, Task)

GenomicStudy.referrer

Healthcare professional who requested or referred the genomic study

Definition: Healthcare professional who requested or referred the genomic study.

Cardinality: 0..1

Type: Reference(Practitioner, PractitionerRole)

GenomicStudy.interpreter

Healthcare professionals who interpreted the genomic study

Definition: Healthcare professionals who interpreted the genomic study.

Cardinality: 0..*

Type: Reference(Practitioner, PractitionerRole)

GenomicStudy.reason

Why the genomic study was performed

Definition: Why the genomic study was performed.

Cardinality: 0..*

Type: CodeableReference

GenomicStudy.instantiatesCanonical

The defined protocol that describes the study

Definition: The defined protocol that describes the study.

Cardinality: 0..1

Type: canonical

GenomicStudy.instantiatesUri

The URL pointing to an externally maintained protocol that describes the study

Definition: The URL pointing to an externally maintained protocol that describes the study.

Cardinality: 0..1

Type: uri

GenomicStudy.note

Comments related to the genomic study

Definition: Comments related to the genomic study.

Cardinality: 0..*

Type: Annotation

GenomicStudy.description

Description of the genomic study

Definition: Description of the genomic study.

Cardinality: 0..1

Type: markdown

GenomicStudy.analysis

Genomic Analysis Event

Definition: The details about a specific analysis that was performed in this GenomicStudy.

Cardinality: 0..*

Type: BackboneElement

GenomicStudy.analysis.identifier

Identifiers for the analysis event

Definition: Identifiers for the analysis event.

Cardinality: 0..*

Type: Identifier

Summary: true

GenomicStudy.analysis.methodType

Type of the methods used in the analysis (e.g., FISH, Karyotyping, MSI)

Definition: Type of the methods used in the analysis, e.g., Fluorescence in situ hybridization (FISH), Karyotyping, or Microsatellite instability testing (MSI).

Cardinality: 0..*

Type: CodeableConcept

Binding: example:genomicstudy-methodtype

Summary: true

GenomicStudy.analysis.changeType

Type of the genomic changes studied in the analysis (e.g., DNA, RNA, or AA change)

Definition: Type of the genomic changes studied in the analysis, e.g., DNA, RNA, or amino acid change.

Cardinality: 0..*

Type: CodeableConcept

Binding: example:genomicstudy-changetype

GenomicStudy.analysis.genomeBuild

Genome build that is used in this analysis

Definition: The reference genome build that is used in this analysis.

Cardinality: 0..1

Type: CodeableConcept

Binding: extensible:LL1040-6

GenomicStudy.analysis.instantiatesCanonical

The defined protocol that describes the analysis

Definition: The defined protocol that describes the analysis.

Cardinality: 0..1

Type: canonical

GenomicStudy.analysis.instantiatesUri

The URL pointing to an externally maintained protocol that describes the analysis

Definition: The URL pointing to an externally maintained protocol that describes the analysis.

Cardinality: 0..1

Type: uri

GenomicStudy.analysis.title

Name of the analysis event (human friendly)

Definition: Name of the analysis event (human friendly).

Cardinality: 0..1

Type: string

Summary: true

GenomicStudy.analysis.focus

What the genomic analysis is about, when it is not about the subject of record

Definition: The focus of a genomic analysis when it is not the patient of record representing something or someone associated with the patient such as a spouse, parent, child, or sibling. For example, in trio testing, the GenomicStudy.subject would be the child (proband) and the GenomicStudy.analysis.focus of a specific analysis would be the parent.

Comments: If the focus of the analysis is not known, the value of this field SHALL use the data absent extension.

Cardinality: 0..*

Type: Reference(Resource)

Summary: true

GenomicStudy.analysis.specimen

The specimen used in the analysis event

Definition: The specimen used in the analysis event.

Cardinality: 0..*

Type: Reference(Specimen)

Summary: true

GenomicStudy.analysis.date

The date of the analysis event

Definition: The date of the analysis event.

Cardinality: 0..1

Type: dateTime

GenomicStudy.analysis.note

Any notes capture with the analysis event

Definition: Any notes capture with the analysis event.

Cardinality: 0..*

Type: Annotation

GenomicStudy.analysis.protocolPerformed

The protocol that was performed for the analysis event

Definition: The protocol that was performed for the analysis event.

Cardinality: 0..1

Type: Reference(Procedure, Task)

GenomicStudy.analysis.regionsStudied

The genomic regions to be studied in the analysis (BED file)

Definition: The genomic regions to be studied in the analysis (BED file).

Cardinality: 0..*

Type: Reference(DocumentReference, Observation)

GenomicStudy.analysis.regionsCalled

Genomic regions actually called in the analysis event (BED file)

Definition: Genomic regions actually called in the analysis event (BED file).

Cardinality: 0..*

Type: Reference(DocumentReference, Observation)

GenomicStudy.analysis.input

Inputs for the analysis event

Definition: Inputs for the analysis event.

Cardinality: 0..*

Type: BackboneElement

GenomicStudy.analysis.input.file

File containing input data

Definition: File containing input data.

Cardinality: 0..1

Type: Reference(DocumentReference)

Summary: true

GenomicStudy.analysis.input.type

Type of input data (e.g., BAM, CRAM, or FASTA)

Definition: Type of input data, e.g., BAM, CRAM, or FASTA.

Cardinality: 0..1

Type: CodeableConcept

Binding: example:genomicstudy-dataformat

GenomicStudy.analysis.input.generatedBy[x]

The analysis event or other GenomicStudy that generated this input file

Definition: The analysis event or other GenomicStudy that generated this input file.

Cardinality: 0..1

Type: Identifier, Reference(GenomicStudy)

GenomicStudy.analysis.output

Outputs for the analysis event

Definition: Outputs for the analysis event.

Cardinality: 0..*

Type: BackboneElement

GenomicStudy.analysis.output.file

File containing output data

Definition: File containing output data.

Cardinality: 0..1

Type: Reference(DocumentReference)

Summary: true

GenomicStudy.analysis.output.type

Type of output data (e.g., VCF, MAF, or BAM)

Definition: Type of output data, e.g., VCF, MAF, or BAM.

Cardinality: 0..1

Type: CodeableConcept

Binding: example:genomicstudy-dataformat

Summary: true

GenomicStudy.analysis.performer

Performer for the analysis event

Definition: Performer for the analysis event.

Cardinality: 0..*

Type: BackboneElement

GenomicStudy.analysis.performer.actor

The organization, healthcare professional, or others who participated in performing this analysis

Definition: The organization, healthcare professional, or others who participated in performing this analysis.

Cardinality: 0..1

Type: Reference(Practitioner, PractitionerRole, Organization, Device)

GenomicStudy.analysis.performer.role

Role of the actor for this analysis

Definition: Role of the actor for this analysis.

Cardinality: 0..1

Type: CodeableConcept

GenomicStudy.analysis.device

Devices used for the analysis (e.g., instruments, software), with settings and parameters

Definition: Devices used for the analysis (e.g., instruments, software), with settings and parameters.

Cardinality: 0..*

Type: BackboneElement

GenomicStudy.analysis.device.device

Device used for the analysis

Definition: Device used for the analysis.

Cardinality: 0..1

Type: Reference(Device)

GenomicStudy.analysis.device.function

Specific function for the device used for the analysis

Definition: Specific function for the device used for the analysis.

Cardinality: 0..1

Type: CodeableConcept