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Clinical Genomics icon Work GroupMaturity Level: 0 Trial UseSecurity Category: Patient Compartments: Patient

Detailed Descriptions for the elements in the GenomicStudy resource.

GenomicStudy
Definition

A GenomicStudy is a set of analyses performed to analyze and generate genomic data.

Short DisplayGenomic Study
Cardinality0..*
TypeDomainResource
Summaryfalse
GenomicStudy.identifier
Definition

Identifiers for this genomic study.

Short DisplayIdentifiers for this genomic study
NoteThis is a business identifier, not a resource identifier (see discussion)
Cardinality0..*
TypeIdentifier
Summarytrue
GenomicStudy.status
Definition

The status of the genomic study.

Short Displayregistered | available | cancelled | entered-in-error | unknown
Cardinality1..1
Terminology BindingGenomic Study Status (Required)
Typecode
Is Modifiertrue (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)
Summarytrue
GenomicStudy.type
Definition

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

Short DisplayThe type of the study (e.g., Familial variant segregation, Functional variation detection, or Gene expression profiling)
Cardinality0..*
Terminology BindingGenomic Study Type (Example)
TypeCodeableConcept
Summarytrue
GenomicStudy.subject
Definition

The primary subject of the genomic study.

Short DisplayThe primary subject of the genomic study
Cardinality1..1
TypeReference(Patient | Group | Substance | BiologicallyDerivedProduct | NutritionProduct)
Summarytrue
GenomicStudy.encounter
Definition

The healthcare event with which this genomics study is associated.

Short DisplayThe healthcare event with which this genomics study is associated
Cardinality0..1
TypeReference(Encounter)
Summarytrue
GenomicStudy.startDate
Definition

When the genomic study was started.

Short DisplayWhen the genomic study was started
Cardinality0..1
TypedateTime
Summaryfalse
GenomicStudy.basedOn
Definition

Event resources that the genomic study is based on.

Short DisplayEvent resources that the genomic study is based on
Cardinality0..*
TypeReference(ServiceRequest | Task)
Summaryfalse
GenomicStudy.referrer
Definition

Healthcare professional who requested or referred the genomic study.

Short DisplayHealthcare professional who requested or referred the genomic study
Cardinality0..1
TypeReference(Practitioner | PractitionerRole)
Summaryfalse
GenomicStudy.interpreter
Definition

Healthcare professionals who interpreted the genomic study.

Short DisplayHealthcare professionals who interpreted the genomic study
Cardinality0..*
TypeReference(Practitioner | PractitionerRole)
Summaryfalse
GenomicStudy.reason
Definition

Why the genomic study was performed.

Short DisplayWhy the genomic study was performed
Cardinality0..*
TypeCodeableReference(Condition | Observation)
Summaryfalse
GenomicStudy.instantiatesCanonical
Definition

The defined protocol that describes the study.

Short DisplayThe defined protocol that describes the study
Cardinality0..1
Typecanonical(PlanDefinition)
Summaryfalse
GenomicStudy.instantiatesUri
Definition

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

Short DisplayThe URL pointing to an externally maintained protocol that describes the study
Cardinality0..1
Typeuri
Summaryfalse
GenomicStudy.note
Definition

Comments related to the genomic study.

Short DisplayComments related to the genomic study
Cardinality0..*
TypeAnnotation
Summaryfalse
GenomicStudy.description
Definition

Description of the genomic study.

Short DisplayDescription of the genomic study
Cardinality0..1
Typemarkdown
Summaryfalse
GenomicStudy.analysis
Definition

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

Short DisplayGenomic Analysis Event
Cardinality0..*
Summaryfalse
GenomicStudy.analysis.identifier
Definition

Identifiers for the analysis event.

Short DisplayIdentifiers for the analysis event
NoteThis is a business identifier, not a resource identifier (see discussion)
Cardinality0..*
TypeIdentifier
Summarytrue
GenomicStudy.analysis.methodType
Definition

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

Short DisplayType of the methods used in the analysis (e.g., FISH, Karyotyping, MSI)
Cardinality0..*
Terminology BindingGenomic Study Method Type (Example)
TypeCodeableConcept
Summarytrue
GenomicStudy.analysis.changeType
Definition

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

Short DisplayType of the genomic changes studied in the analysis (e.g., DNA, RNA, or AA change)
Cardinality0..*
Terminology BindingGenomic Study Change Type (Example)
TypeCodeableConcept
Summaryfalse
GenomicStudy.analysis.genomeBuild
Definition

The reference genome build that is used in this analysis.

Short DisplayGenome build that is used in this analysis
Cardinality0..1
Terminology BindingHumanRefSeqNCBIBuildId icon:
TypeCodeableConcept
Summaryfalse
GenomicStudy.analysis.instantiatesCanonical
Definition

The defined protocol that describes the analysis.

Short DisplayThe defined protocol that describes the analysis
Cardinality0..1
Typecanonical(PlanDefinition | ActivityDefinition)
Summaryfalse
GenomicStudy.analysis.instantiatesUri
Definition

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

Short DisplayThe URL pointing to an externally maintained protocol that describes the analysis
Cardinality0..1
Typeuri
Summaryfalse
GenomicStudy.analysis.title
Definition

Name of the analysis event (human friendly).

Short DisplayName of the analysis event (human friendly)
Cardinality0..1
Typestring
Summarytrue
GenomicStudy.analysis.focus
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.

Short DisplayWhat the genomic analysis is about, when it is not about the subject of record
Cardinality0..*
TypeReference(Any)
Summarytrue
Comments

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

GenomicStudy.analysis.specimen
Definition

The specimen used in the analysis event.

Short DisplayThe specimen used in the analysis event
Cardinality0..*
TypeReference(Specimen)
Summarytrue
GenomicStudy.analysis.date
Definition

The date of the analysis event.

Short DisplayThe date of the analysis event
Cardinality0..1
TypedateTime
Summaryfalse
GenomicStudy.analysis.note
Definition

Any notes capture with the analysis event.

Short DisplayAny notes capture with the analysis event
Cardinality0..*
TypeAnnotation
Summaryfalse
GenomicStudy.analysis.protocolPerformed
Definition

The protocol that was performed for the analysis event.

Short DisplayThe protocol that was performed for the analysis event
Cardinality0..1
TypeReference(Procedure | Task)
Summaryfalse
GenomicStudy.analysis.regionsStudied
Definition

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

Short DisplayThe genomic regions to be studied in the analysis (BED file)
Cardinality0..*
TypeReference(DocumentReference | Observation)
Summaryfalse
GenomicStudy.analysis.regionsCalled
Definition

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

Short DisplayGenomic regions actually called in the analysis event (BED file)
Cardinality0..*
TypeReference(DocumentReference | Observation)
Summaryfalse
GenomicStudy.analysis.input
Definition

Inputs for the analysis event.

Short DisplayInputs for the analysis event
Cardinality0..*
Summaryfalse
GenomicStudy.analysis.input.file
Definition

File containing input data.

Short DisplayFile containing input data
Cardinality0..1
TypeReference(DocumentReference)
Summarytrue
GenomicStudy.analysis.input.type
Definition

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

Short DisplayType of input data (e.g., BAM, CRAM, or FASTA)
Cardinality0..1
Terminology BindingGenomic Study Data Format (Example)
TypeCodeableConcept
Summaryfalse
GenomicStudy.analysis.input.generatedBy[x]
Definition

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

Short DisplayThe analysis event or other GenomicStudy that generated this input file
Cardinality0..1
TypeIdentifier|Reference(GenomicStudy)
[x] NoteSee Choice of Datatypes for further information about how to use [x]
Summaryfalse
GenomicStudy.analysis.output
Definition

Outputs for the analysis event.

Short DisplayOutputs for the analysis event
Cardinality0..*
Summaryfalse
GenomicStudy.analysis.output.file
Definition

File containing output data.

Short DisplayFile containing output data
Cardinality0..1
TypeReference(DocumentReference)
Summarytrue
GenomicStudy.analysis.output.type
Definition

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

Short DisplayType of output data (e.g., VCF, MAF, or BAM)
Cardinality0..1
Terminology BindingGenomic Study Data Format (Example)
TypeCodeableConcept
Summarytrue
GenomicStudy.analysis.performer
Definition

Performer for the analysis event.

Short DisplayPerformer for the analysis event
Cardinality0..*
Summaryfalse
GenomicStudy.analysis.performer.actor
Definition

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

Short DisplayThe organization, healthcare professional, or others who participated in performing this analysis
Cardinality0..1
TypeReference(Practitioner | PractitionerRole | Organization | Device)
Summaryfalse
GenomicStudy.analysis.performer.role
Definition

Role of the actor for this analysis.

Short DisplayRole of the actor for this analysis
Cardinality0..1
TypeCodeableConcept
Summaryfalse
GenomicStudy.analysis.device
Definition

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

Short DisplayDevices used for the analysis (e.g., instruments, software), with settings and parameters
Cardinality0..*
Summaryfalse
GenomicStudy.analysis.device.device
Definition

Device used for the analysis.

Short DisplayDevice used for the analysis
Cardinality0..1
TypeReference(Device)
Summaryfalse
GenomicStudy.analysis.device.function
Definition

Specific function for the device used for the analysis.

Short DisplaySpecific function for the device used for the analysis
Cardinality0..1
TypeCodeableConcept
Summaryfalse