FHIR Osiris Implementation Guide
1.1.0 - trial-implementation

Publication Build: This will be filled in by the publication tooling

## Example Observation: fhir-osiris-example-snp-1

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