Genomics Reporting Implementation Guide
3.0.0 - STU3
Genomics Reporting Implementation Guide
3.0.0 - STU3
Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 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-structural-subsuming-variants | Version: 3.0.0 | |||
| Active as of 2024-12-12 | Computable Name: FindPopulationStructuralSubsumingVariants | |||
Retrieve count or list of patients having structural subsuming variants in specified regions.
Retrieve count or list of patients having structural subsuming variants in specified regions. (See section 'Genes vs. Regions' for the distinction between variants that 'intersect' vs. 'subsume' a region).
A patient meets numerator criteria if they have at least one structural variant subsuming a given range.
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.
Generated Narrative: OperationDefinition find-population-structural-subsuming-variants
| Use | Name | Scope | Cardinality | Type | Binding | Documentation |
| IN | ranges | 1..* | string (special) | List of regions to be searched for variants. Must be in zero-based RefSeq:Integer-range format (e.g. 'NC_000007.14:55174721-55174820'). | ||
| 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 | variants | 1..* | ||||
| OUT | variants.rangeItem | 1..1 | string | range from rangeList | ||
| OUT | variants.numerator | 1..1 | Quantity | Count of patients having this variant | ||
| OUT | variants.denominator | 0..1 | Quantity | Count of patients in the cohort searched | ||
| OUT | variants.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 pharmacogeneticist is studying the accuracy of CYP2D6*5 (whole gene deletion) calling, and wants to compare cases where a structural variant caller indicates a whole gene deletion of CYP2D6 (NC_000022.10:42522500-42526812) against a pipeline used to report pharmacogenes.
To begin the process, the pharmacogeneticist identifies all patients that have structural variants subsuming CYP2D6.
IG © 2022+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#3.0.0 based on FHIR 4.0.1. Generated 2024-12-12
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