Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

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

Example Parameters: FindStudyMetadataOutput

Parameters

tests
 testIdtest08736abc87
 testDate2020-07-13
 specimenIdspecimen9652adbg69
 genomicBuildGRCh38
 dnaChangeTypeSNV
 regionStudied['NC_000007.14:55019016-55019365', 'NC_000007.14:55142285-55142437', 'NC_000007.14:55143304-55143488', 'NC_000007.14:55146605-55146740', 'NC_000007.14:55151293-55151362', 'NC_000007.14:55152545-55152664', 'NC_000007.14:55154010-55154152', 'NC_000007.14:55155829-55155946', 'NC_000007.14:55156532-55156659', 'NC_000007.14:55156758-55156832', 'NC_000007.14:55157662-55157753', 'NC_000007.14:55160138-55160338', 'NC_000007.14:55161498-55161631', 'NC_000007.14:55163732-55163823', 'NC_000007.14:55165279-55165437', 'NC_000007.14:55171174-55171213', 'NC_000007.14:55172982-55173124', 'NC_000007.14:55173920-55174043', 'NC_000007.14:55174721-55174820', 'NC_000007.14:55181292-55181478', 'NC_000007.14:55191718-55191874', 'NC_000007.14:55192765-55192841', 'NC_000007.14:55198716-55198863', 'NC_000007.14:55200315-55200413', 'NC_000007.14:55201187-55201355', 'NC_000007.14:55201734-55201782', 'NC_000007.14:55202516-55202625', 'NC_000007.14:55205255-55211628']
 uncallableRegions['NC_000007.14:55173910-55174053', 'NC_000007.14:55174711-55174830', 'NC_000007.14:55181282-55181488']