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-population-specific-haplotypes | Version: 3.0.1-SNAPSHOT | |||
| Active as of 2024-04-09 | Computable Name: FindPopulationSpecificHaplotypes | |||
Retrieve count or list of patients having specified genotypes/haplotypes.
Retrieve count or list of patients having specified genotypes/haplotypes.
Population queries are designed to return a count of patients that match each item sought, with or without a list of patients matching the item(s) sought.
As described in general guidance, FHIR Genomics Operations do not support 'AND' logic unless stated otherwise. This particular operation supports a logical 'AND' of the 'haplotypes' parameter, specified by repeating the parameter. 'AND' logic is useful when searching for other subjects sharing a specific constellation of haplotypes, as in the following example that seeks patients having haplotype 'a' or 'b' or 'c', and haplotype 'd' or 'e' or 'f', and haplotype 'i' or 'j' or 'k':
...&haplotypes=a,b,c&haplotypes=d,e,f&haplotypes=i,j,k
Parameters
| Use | Name | Scope | Cardinality | Type | Binding | Documentation |
| IN | haplotypes | 1..* | string (token) | List of haplotypes and/or genotypes being sought. Must be in token or codesystem|code format. | ||
| IN | genomicSourceClass | 0..1 | string (token) | Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class. | ||
| IN | includePatientList | 0..1 | boolean | Include list of matching patients if set to true. Default=false. | ||
| OUT | haplotypes | 1..* | (one for each haplotype in haplotypeList) | |||
| OUT | haplotypes.haplotypeItem | 1..1 | string | haplotype/genotype from haplotypeList | ||
| OUT | haplotypes.numerator | 1..1 | Quantity | Count of patients having this variant | ||
| OUT | haplotypes.denominator | 0..1 | Quantity | Count of patients in the cohort searched | ||
| OUT | haplotypes.subject | 0..* | string | Patient ID. Include if includePatientList=true |
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 |
A transplant specialist is looking for potential unrelated donors in the donor registry that are a perfect HLA match for their patient.
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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