$match

Find Subject Molecular Consequences

activeGenomics Reporting3.0.0operation8 inputs2 outputs

Retrieves molecular consequences of a DNA variant.

Metadata

hl7.org/fhir
Canonical URL
http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-subject-molecular-consequences
Code
$match
Kind
operation
Affects State
No
Publisher
HL7 International / Clinical Genomics

Invocation Context

Can be invoked at:
Type Level

Input Parameters (8)

NameTypeCard.Description
subject*string1..1The subject of interest.
variantsstring0..*List of variants from which consequences are derived. Must be in HGVS or SPDI format.
rangesstring0..*List of regions to be searched for variants. Must be in zero-based RefSeq:Integer-range format (e.g. 'NC_000007.14:55174721-55174820').
featureConsequencesstring0..*List of consequences sought. Must be in token or codesystem|code format. (These will generally be coded with Sequence Ontology codes under SO:0001537)
testIdentifiersstring0..*Supply a list of test identifiers. Only results originating from one of these tests will be returned.
testDateRangePeriod0..1Supply a date range. Only results generated during this range will be returned.
specimenIdentifiersstring0..*Supply a list of specimen identifiers. Only results derived from one of these specimens will be returned.
genomicSourceClassstring0..1Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class.

Output Parameters (2)

NameTypeCard.Description
consequenceObservation0..*Consequences must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence]. The target(s) of the consequence's derivedFrom shall also be included in the response.
variantObservation0..*Variants must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant].

Additional Information

Version
3.0.0
Date
2024-12-12T20:43:36+00:00