Clinical Genomics Resource Incubator
0.1.0-ci-build - CI Build International flag

Clinical Genomics Resource Incubator, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/cg-incubator/ and changes regularly. See the Directory of published versions

Example MolecularDefinition: Molecular Definition Allele Sliced 1

Language: en

moleculeType: DNA sequence

location

sequenceLocation

sequenceContext: Starting Sequence Resource: LRG_584

coordinateInterval

CoordinateSystems

-System
*0-based interval counting

start: 5001

end: 97867

representation

focus: Allele State

resolvable: DocumentReference: identifier = http://example.org/identifiers/files#11111; status = current; docStatus = preliminary; description = A sample Document Reference instance representing Homo sapiens cytochrome P450 family 2 subfamily C member 19 (CYP2C19), RefSeqGene (LRG_584) on chromosome 10.

representation

focus: Context State

relative

startingMolecule: Starting Sequence Resource: LRG_584

edit

coordinateInterval

CoordinateSystems

-System
*0-based interval counting

start: 5123

end: 5124

replacementMolecule: Replacement Sequence Resource: T

replacedMolecule: Replaced Sequence Resource: C