Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild 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

## OperationDefinition: Find Population Specific Haplotypes

Official URL: http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-population-specific-haplotypes | Version: 4.0.0-cibuild
Standards status: Trial-use | Maturity Level: 2 | Computable Name: FindPopulationSpecificHaplotypes

Retrieve count or list of patients having specified genotypes/haplotypes.

### Description

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

### Notes:

#### Error Codes

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

#### Examples

A transplant specialist is looking for potential unrelated donors in the donor registry that are a perfect HLA match for their patient.

    GET .../$find-population-specific-haplotypes?haplotypes=A*1&haplotypes=B*8&haplotypes=DRB1*03&haplotypes=DRB3*01&haplotypes=A*31&haplotypes=B*35&haplotypes=DRB1*04&haplotypes=DRB4*01:02&includePatientList=true

See example output.