status: Available

type: Solid tumor whole exome sequencing panel

subject: John Junior Doe (official) Unknown, DoB: 2001-01-01 ( Medical record number: 11117 (use: temp, period: 2021-01-01 --> (ongoing)))

startDate: 2019-03-01

basedOn: ServiceRequest Molecular genetic test (procedure)

interpreter: Practitioner Jane Doel

Reasons

note:

For technical reasons, PIK3CB was deemed uncallable.

analysis

methodType: Sequence analysis of the entire coding region

changeType: SNV, MNV, delins

genomeBuild: GRCh38

instantiatesUri: https://pubmed.ncbi.nlm.nih.gov/33927380/

focus: John Junior Doe (official) Unknown, DoB: 2001-01-01 ( Medical record number: 11117 (use: temp, period: 2021-01-01 --> (ongoing)))

specimen: Specimen: identifier = http://example.org/identifiers/specimens#4; status = available; type = Specimen from lung obtained by biopsy (specimen); receivedTime = 2019-03-01 01:01:01+0000

date: 2019-03-01 01:01:10-0600

note:

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

regionsStudied: DocumentReference: identifier = http://example.org/identifiers/files#11117; status = current; docStatus = preliminary; description = WES_FullSequencedRegion_GRCh38: A sample Document Reference instance representing a BED file that may be used as input or output of a genomic analysis pipeline.; securityLabel = Restricted

regionsCalled: DocumentReference: identifier = http://example.org/identifiers/files#11118; status = current; docStatus = preliminary; description = SimpleVariantAnalysis_called: A sample Document Reference instance representing a BED file that may be used as input or output of a genomic analysis pipeline.; securityLabel = Restricted

Outputs

-	File	Type
*	DocumentReference: identifier = http://example.org/identifiers/files#11119; status = current; docStatus = preliminary; description = genomicVCFfile_simple: A sample Document Reference instance representing a VCF file that may be used as input or output of a genomic analysis pipeline.; securityLabel = Restricted	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)

analysis

methodType: Deletion/duplication analysis

changeType: CNV

genomeBuild: GRCh38

instantiatesUri: https://pubmed.ncbi.nlm.nih.gov/33927380/

focus: John Junior Doe (official) Unknown, DoB: 2001-01-01 ( Medical record number: 11117 (use: temp, period: 2021-01-01 --> (ongoing)))

specimen: Specimen: identifier = http://example.org/identifiers/specimens#4; status = available; type = Specimen from lung obtained by biopsy (specimen); receivedTime = 2019-03-01 01:01:01+0000

date: 2019-03-01 01:01:10-0600

note:

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

regionsStudied: DocumentReference: identifier = http://example.org/identifiers/files#11117; status = current; docStatus = preliminary; description = WES_FullSequencedRegion_GRCh38: A sample Document Reference instance representing a BED file that may be used as input or output of a genomic analysis pipeline.; securityLabel = Restricted

regionsCalled: DocumentReference: identifier = http://example.org/identifiers/files#11120; status = current; docStatus = preliminary; description = CNVAnalysis_called: A sample Document Reference instance representing a BED file that may be used as input or output of a genomic analysis pipeline.; securityLabel = Restricted

Outputs

-	File	Type
*	DocumentReference: identifier = http://example.org/identifiers/files#11121; status = current; docStatus = preliminary; description = genomicVCFfile_cnv: A sample Document Reference instance representing a VCF file that may be used as input or output of a genomic analysis pipeline.; securityLabel = Restricted	VCF

Performers

-	Actor	Role
*	Practitioner Jane Doel	Performer