Stream: genomics
Topic: how to capture geneName
Abhi Pratap (Feb 09 2017 at 07:10):
If I want to capture the geneName along with variant info, how do I capture that ? Thanks
Bret H (Mar 15 2017 at 20:47):
I think you can use observation-geneticsGene in an instance of Observation-genetics Profile (http://hl7.org/fhir/StructureDefinition/observation-geneticsGene). See the implementation guide to look for your specific use case ( http://hl7.org/fhir/2016Sep/genomics.html ). Your Sequence Resource will contain the variant info and Sequence.variant.variantPointer within your sequence resource points to the Observation-genetics Profile with the gene name.
Last updated: Apr 12 2022 at 19:14 UTC