Genomicstudy-example - FHIR v6.0.0-ballot2

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Example GenomicStudy/example (Narrative)

Clinical Genomics Work Group

Maturity Level: N/A

Standards Status: Informative

Compartments: Group, Patient

This is the narrative for the resource. See also the XML, JSON or Turtle format. This example conforms to the profile GenomicStudy.

Generated Narrative: GenomicStudy example

identifier: http://www.somesystemabc.net/identifiers/genomicstudies/urn:uuid:1111-1111-1111-1111 (use: temp, )

status: unknown

type: Familial variant segregation

subject: Patient/denovoChild

encounter: Encounter/denovoEncounter

startDate: 2021-01-01

basedOn: ServiceRequest/genomicServiceRequest

referrer: Practitioner/practitioner01

interpreter: Practitioner/practitioner02

Reasons

Concept

Disorder of lipid metabolism (disorder)

note: This de novo mutation is urgent and important for establishing the treatment plan.

description:

De novo mutation study of the patient.

analysis
identifier: http://www.somesystemabc.net/identifiers/genomicAnalyses/urn:uuid:1111-1111-1111-1111 (use: temp, )
instantiatesUri: https://pubmed.ncbi.nlm.nih.gov/33927380/
title: Proband Sequence Variation Detection Using Next Generation Sequencing
specimen: Specimen/denovo-1
date: 2021-01-01T01:01:10-06:00
note: This is a next generation sequencing analysis of a proband.
Inputs

- File Type

* DocumentReference/genomicFile1 VCF
Performers

- Actor Role

* Practitioner/practitioner02 Performer
Devices

- Device Function

* Device/NGS-device Next Generation Sequencing

analysis
identifier: http://www.somesystemabc.net/identifiers/genomicAnalyses/urn:uuid:1111-1111-1111-1112 (use: temp, )
instantiatesUri: https://pubmed.ncbi.nlm.nih.gov/33927380/
title: Maternal Sequence Variation Detection Using Next Generation Sequencing
focus: Patient/denovoMother
specimen: Specimen/denovo-2
date: 2021-01-01T01:01:10-06:00
note: This is a next generation sequencing analysis of a mother of a proband.
Inputs

- File Type

* DocumentReference/genomicFile2 VCF
Performers

- Actor Role

* Practitioner/practitioner02 Performer
Devices

- Device

* Device/NGS-device

analysis
identifier: http://www.somesystemabc.net/identifiers/genomicAnalyses/urn:uuid:1111-1111-1111-1113 (use: temp, )
instantiatesUri: https://pubmed.ncbi.nlm.nih.gov/33927380/
title: Paternal Sequence Variation Detection Using Next Generation Sequencing
focus: Patient/denovoFather
specimen: Specimen/denovo-3
date: 2021-01-01T01:01:10-06:00
note: This is a next generation sequencing analysis of a father of a proband.
Inputs

- File Type

* DocumentReference/genomicFile3 VCF
Performers

- Actor Role

* Practitioner/practitioner02 Performer
Devices

- Device

* Device/NGS-device

analysis
identifier: http://www.somesystemabc.net/identifiers/genomicAnalyses/urn:uuid:1111-1111-1111-1114 (use: temp, )
instantiatesUri: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885382/
title: De Novo Mutation Detection and Interpretation
date: 2021-01-01T03:01:10-06:00
note: This is a next generation sequencing analysis of the comparison analysis of proband and parents sequences.
input
file: DocumentReference/genomicFile1
type: VCF
input
file: DocumentReference/genomicFile2
type: VCF
input
file: DocumentReference/genomicFile3
type: VCF
Performers

- Actor Role

* Practitioner/practitioner02 Performer
Devices

- Device

* Device/Triodenovo-SW

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.