Release 5 R6 Ballot (2nd Draft)

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Example GenomicStudy/example-lungMass (Narrative)

Clinical Genomics Work Group Maturity Level : N/A Standards Status : Informative Compartments : 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-lungMass

identifier : http://www.somesystemabc.net/identifiers/genomicstudies /urn:uuid:1111-1111-1111-1112 (use: temp, )

status : registered

type : Sequencing of entire coding region of gene (procedure)

subject : ??

encounter : ??

startDate : 2019-03-01

basedOn : ??

referrer : ??

interpreter : ??

Reasons

- Concept
* Lung mass (finding)

note : For technical reasons, PIK3CB was deemed uncallable.

description :

Whole exome sequencing of lung biopsy. 300 genes are examined for simple variants (SNV, MNV, InDel), and 170 genes are also examined for CNVs. For technical reasons, PIK3CB was deemed uncallable.

analysis

identifier : http://www.somesystemabc.net/identifiers/genomicAnalyses /urn:uuid:1111-1111-1111-1112 (use: official, )

methodType : Nucleic acid sequencing (procedure)

changeType : SNV , MNV , delins

genomeBuild : GRCh38

title : Simple variant analysis

specimen : ??

date : 2019-03-01T01:01:10-06:00

note : For technical reasons, PIK3CB was deemed uncallable using this method.

regionsStudied : ??

regionsCalled : ??

Outputs

- File Type
* ?? VCF

Performers

- Actor Role
* ?? Performer

Devices

- Device Function
* ?? Next Generation Sequencing

analysis

identifier : http://www.somesystemabc.net/identifiers/genomicAnalyses /urn:uuid:1111-1111-1111-1115 (use: official, )

methodType : Nucleic acid sequencing (procedure)

changeType : CNV

genomeBuild : GRCh38

title : CNV analysis

specimen : ??

date : 2019-03-01T01:01:10-06:00

note : For technical reasons, PIK3CB was deemed uncallable using this method.

regionsStudied : ??

regionsCalled : ??

Outputs

- File Type
* ?? VCF

Performers

- Actor Role
* ?? Performer

 

 

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.