Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot
Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot
Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
| Official URL: http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-subject-specific-haplotypes | Version: 3.0.1-SNAPSHOT | |||
| Active as of 2024-04-09 | Computable Name: FindSubjectSpecificHaplotypes | |||
See if specified haplotypes/genotypes are present.
Parameters
| Use | Name | Scope | Cardinality | Type | Binding | Documentation |
| IN | subject | 1..1 | string (reference) | The subject of interest. | ||
| IN | haplotypes | 1..* | string (token) | List of haplotypes and/or genotypes being sought. Must be in token or codesystem|code format. | ||
| IN | testIdentifiers | 0..* | string (token) | Supply a list of test identifiers. Only results originating from one of these tests will be returned. | ||
| IN | testDateRange | 0..1 | Period | Supply a date range. Only results generated during this range will be returned. | ||
| IN | specimenIdentifiers | 0..* | string (token) | Supply a list of specimen identifiers. Only results derived from one of these specimens will be returned. | ||
| IN | genomicSourceClass | 0..1 | string (token) | Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include haplotypes irrespective of genomic source class. | ||
| OUT | haplotypes | 1..* | (one for each haplotype in haplotypeList) | |||
| OUT | haplotypes.haplotypeItem | 1..1 | string | haplotype/genotype from haplotypeList | ||
| OUT | haplotypes.presence | 1..1 | boolean | |||
| OUT | haplotypes.haplotype | 0..* | Observation | Haplotypes must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype]. | ||
| OUT | haplotypes.genotype | 0..* | Observation | Genotypes must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype]. |
Valid response codes are shown in the following table. Additional response codes (e.g. 5xx server error) may also be encountered.
| Response Code | Description |
|---|---|
| 200 | Successfully executed request |
| 400 | ERROR: Invalid query parameters |
| 404 | ERROR: Patient not found |
| 422 | ERROR: Failed LiftOver |
Are any of these haplotypes present [CYP2D6 *1/*5; CYP2D6 *1/*15; CYP2C19 *1/*2]?
$find-subject-specific-haplotypes?subject=HG00403&haplotypes=CYP2D6 *1/*5,CYP2D6 *1/*15,CYP2C19 *1/*2
Is haplotype [HLA-A*02:302+HLA-A*23:26/HLA-A*23:39^HLA-B*44:02:13+HLA-B*49:08] present?
$find-subject-specific-haplotypes?subject=HG00403&haplotypes=http://glstring.org|hla#3.33.0#HLA-A*02:302+HLA-A*23:26/HLA-A*23:39^HLA-B*44:02:13+HLA-B*49:08
Patient HG00403 underwent HLA typing, and clinician wants to know if there is any haplotype or genotype indication that HLA-A*23 is present.
IG © 2022+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#3.0.1-SNAPSHOT based on FHIR 4.0.1. Generated 2024-04-09
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