FHIR Osiris Implementation Guide
1.1.0 - trial-implementation
Publication Build: This will be filled in by the publication tooling
Generated Narrative: Observation fhir-osiris-example-snp-1
Profil: Single Nucleotide Polymorphism
Strand bias: false
status: Final
category: Laboratory
code: Genetic variant assessment
subject: Patient Anonyme Male, Date de Naissance :1967-11-08
value: Present
derivedFrom: Observation Omic
component
code: Human reference sequence assembly version
value: hg19
component
code: DNA change type
value: Substitution
component
code: Genomic source class [Type]
value: Somatic
component
code: Allelic read depth
value: 31
component
code: Genomic ref allele [ID]
value: T
component
code: Genomic alt allele [ID]
value: A
component
code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method
value: Chromosome 3
component
code: Genetic variant details
value: 6
component
code: Genomic allele start-end
value: 178916948-178916948
component
code: Allelic state
value: Heterozygous