Generated Narrative: GenomicStudy example
Language: en
identifier: http://example.org/identifiers/genomicstudies/urn:uuid:1111-1111-1111-1111 (use: temp, )
status: Unknown
type: Familial variant segregation
encounter: Encounter: status = in-progress; class = inpatient encounter
startDate: 2021-01-01
basedOn: ServiceRequest Carrier detection, molecular genetics (procedure)
referrer: Practitioner John Doel
interpreter: Practitioner Jane Doel
| 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://example.org/identifiers/genomicAnalyses/urn:uuid:1111-1111-1111-1111 (use: temp, )genomicSourceClass: Germline
title: Proband Sequence Variation Detection Using Next Generation Sequencing
date: 2021-01-01 01:01:10-0600
note:
This is a next generation sequencing analysis of a proband.
Inputs
Performers
Actor Role Practitioner Jane Doel Performer Devices
Device Function Device: identifier = http://example.org/identifiers/devices#11111; status = active; manufacturer = Illumina; type = Device (physical object) Sequencing
analysis
identifier:
http://example.org/identifiers/genomicAnalyses/urn:uuid:1111-1111-1111-1112 (use: temp, )genomicSourceClass: Germline
title: Maternal Sequence Variation Detection Using Next Generation Sequencing
date: 2021-01-01 01:01:10-0600
note:
This is a next generation sequencing analysis of a mother of a proband.
Inputs
Performers
Actor Role Practitioner Jane Doel Performer Devices
Device Device: identifier = http://example.org/identifiers/devices#11111; status = active; manufacturer = Illumina; type = Device (physical object)
analysis
identifier:
http://example.org/identifiers/genomicAnalyses/urn:uuid:1111-1111-1111-1113 (use: temp, )genomicSourceClass: Germline
title: Paternal Sequence Variation Detection Using Next Generation Sequencing
date: 2021-01-01 01:01:10-0600
note:
This is a next generation sequencing analysis of a father of a proband.
Inputs
Performers
Actor Role Practitioner Jane Doel Performer Devices
Device Device: identifier = http://example.org/identifiers/devices#11111; status = active; manufacturer = Illumina; type = Device (physical object)
analysis
identifier:
http://example.org/identifiers/genomicAnalyses/urn:uuid:1111-1111-1111-1114 (use: temp, )title: De Novo Mutation Detection and Interpretation
date: 2021-01-01 03:01:10-0600
note:
This is a next generation sequencing analysis of the comparison analysis of proband and parents sequences.
input
type: VCF
input
type: VCF
input
type: VCF
Performers
Actor Role Practitioner Jane Doel Performer Devices
Device Device: identifier = http://example.org/identifiers/devices#11112; status = active; manufacturer = Vanderbilt Genetics Institute; type = Software (physical object)