$match

Find Subject Variants

activeGenomics Reporting3.0.0operation8 inputs1 output

Determine if simple variants are present that overlap range(s).

Metadata

hl7.org/fhir
Canonical URL
http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-subject-variants
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.
ranges*string1..*List of regions to be searched for variants. Must be in zero-based RefSeq:Integer-range format (e.g. 'NC_000007.14:55174721-55174820').
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.
genomicSourceClasscode0..1Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class.
includeVariantsboolean0..1Include variants in response if set to true. Default=false.
includePhasingboolean0..1If true, then assume includeVariants=true, and return variants and sequence-phase-relationships between returned variants. Default=false.

Output Parameters (1)

NameTypeCard.Description
variantsany1..*(one for each range in rangeList)

Additional Information

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