Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild 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 Bundle: bundle-complexVariant-nonHGVS

Bundle bundle-complexVariant-nonHGVS of type transaction

Entry 1 - fullUrl = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d

Resource Observation:

> Profile: Variant

> status: Final

> category: Laboratory, Genetics

> code: Genetic variant assessment

> subject: John Storm(official) Male, DoB: 1986-12-31

> effective: 2019-03-05

> issued: 2019-03-05 16:04:44+0000

> performer: Organization aTypingLab Inc

> value: Present

> > component

> > code: Transcript ref sequence ID

> > value: NM_022787.3

> > component

> > code: Genomic allele start-end

> > value: 769-769

> > component

> > code: Genomic ref allele [ID]

> > value: G

> > component

> > code: Genomic alt allele [ID]

> > value: A

> > component

> > code: Allelic state

> > value: Heterozygous

Request:

    POST Observation

Entry 2 - fullUrl = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e

Resource Observation:

> Profile: Variant

> status: Final

> category: Laboratory, Genetics

> code: Genetic variant assessment

> subject: John Storm(official) Male, DoB: 1986-12-31

> effective: 2019-03-05

> issued: 2019-03-05 16:04:44+0000

> performer: Organization aTypingLab Inc

> value: Present

> > component

> > code: Transcript ref sequence ID

> > value: NM_022787.3

> > component

> > code: Genomic allele start-end

> > value: 53-53

> > component

> > code: Genomic ref allele [ID]

> > value: A

> > component

> > code: Genomic alt allele [ID]

> > value: G

> > component

> > code: Allelic state

> > value: Heterozygous

Request:

    POST Observation

Entry 3 - fullUrl = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12a

Resource Observation:

> Profile: Genotype

> status: Final

> category: Laboratory, Genetics

> code: Genotype display name

> subject: John Storm(official) Male, DoB: 1986-12-31

> effective: 2019-03-05

> issued: 2019-03-05 16:04:44+0000

> performer: Organization aTypingLab Inc

> value: NM_022787.3(NMNAT1):c.[53A>G];[769G>A] AND Cone-rod dystrophy

> hasMember:

> - unpacked representation of NM_022787.3:c.53A>G
> - unpacked representation of NM_022787.3:c.769G>A

Request:

    POST Observation

Entry 4 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

Resource Organization:

> name: aTypingLab Inc

> alias: aTL

> ### Contacts

> - | Telecom | Address
> * | ph: 1-800-555-1234(Work) | 123 Main St, Sometown, ND 99999(work)

Request:

    POST Organization

Entry 5 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

Resource Patient:

> John Storm(official) Male, DoB: 1986-12-31

> Contact Detail | ph: 1-800-555-1234(Work) 123 Main St, Sometown, ND 99999(work)

Request:

    POST Patient