GenomicStudy Examples

• CNVAnalysis-called — DocumentReference-CNVAnalysis_called — DocumentReference - CNV Analysis - called
• denovo-1 — Specimen-denovo-1 — Specimen - Denovo 1
• denovo-2 — Specimen-denovo-2 — Specimen - Denovo 2
• denovo-3 — Specimen-denovo-3 — Specimen - Denovo 3
• denovoChild — Patient-denovoChild — Patient - denovoChild
• denovoEncounter — Encounter-denovoEncounter — Encounter - denovo
• denovoFather — Patient-denovoFather — Patient - denovoFather
• denovoMother — Patient-denovoMother — Patient - denovoMother
• example — genomicstudy-example — GenomicStudy - Trio study - De novo mutation 1
• example-lungMass — genomicstudy-example-lungMass — GenomicStudy - Lung mass - sequencing analysis
• example-trio2 — genomicstudy-example-trio2 — GenomicStudy - Trio study - De novo mutation 2
• genomicBEDfile — DocumentReference-genomicBEDfile — DocumentReference - Genomic BED File
• genomicEncounter — Encounter-genomicEncounter — Encounter - genomic
• genomicFile1 — DocumentReference-genomicFile1 — DocumentReference - Genomic File 1
• genomicFile2 — DocumentReference-genomicFile2 — DocumentReference - Genomic File 2
• genomicFile3 — DocumentReference-genomicFile3 — DocumentReference - Genomic File 3
• genomicFile4 — DocumentReference-genomicFile4 — DocumentReference - Genomic File 4
• genomicFileFather — DocumentReference-genomicFileFather — DocumentReference - Genomic File of a Father
• genomicFileGroupAsSubject — DocumentReference-genomicFileGroupAsSubject — DocumentReference - Genomic File of a Trio: proband, mother, and father
• genomicFileMother — DocumentReference-genomicFileMother — DocumentReference - Genomic File of a Mother
• genomicFileProband — DocumentReference-genomicFileProband — DocumentReference - Genomic File of a Proband
• genomicPatient — Patient-genomicPatient — Patient - Genomic
• genomicServiceRequest — ServiceRequest-genomicServiceRequest — ServiceRequest - Genomic Example
• genomicServiceRequest2 — ServiceRequest-genomicServiceRequest2 — ServiceRequest - Genomic Example 2
• genomicServiceRequest3 — ServiceRequest-genomicServiceRequest3 — ServiceRequest - Genomic Example 3
• genomicServiceRequest4 — ServiceRequest-genomicServiceRequest4 — ServiceRequest - Genomic Example 4
• genomicSpecimen — Specimen-genomicSpecimen — Specimen - Genomic
• genomicSRFather — ServiceRequest-genomicSRFather — ServiceRequest - Genomic service request that references a proband's father as a subject
• genomicSRMother — ServiceRequest-genomicSRMother — ServiceRequest - Genomic service request that references a proband's mother as a subject
• genomicSRProband — ServiceRequest-genomicSRProband — ServiceRequest - Genomic service request that references a proband as a subject
• genomicstudy-example — genomicstudy-example
• genomicstudy-example-lungMass — genomicstudy-example-lungMass
• genomicstudy-example-trio2 — genomicstudy-example-trio2
• genomicstudy-examples-header — genomicstudy-examples-header
• genomicVCFfile — DocumentReference-genomicVCFfile — DocumentReference - Genomic VCF File
• genomicVCFfile-cnv — DocumentReference-genomicVCFfile_cnv — DocumentReference - Genomic VCF File - CNV
• genomicVCFfile-simple — DocumentReference-genomicVCFfile_simple — DocumentReference - Genomic VCF File - Simple
• groupDenovoFamily — Group-denovoFamily — Group - A group of a trio study including proband, mother, and father
• NGS-device — Device-NGS-device — Device - NGS Device
• practitioner01 — Practitioner-practitioner01 — Practitioner - Example 1
• practitioner02 — Practitioner-practitioner02 — Practitioner - Example 2
• relatedPersonDenovoFather — RelatedPerson-denovoFather — RelatedPerson - a proband's father
• relatedPersonDenovoMother — RelatedPerson-denovoMother — RelatedPerson - a proband's mother
• SimpleVariantAnalysis-called — DocumentReference-SimpleVariantAnalysis_called — DocumentReference - Simple Variant Analysis - Called
• specimenFather — Specimen-specimenFather — Specimen of a proband's father as a subject
• specimenMother — Specimen-specimenMother — Specimen of a proband's mother as a subject
• specimenProband — Specimen-specimenProband — Specimen of a Proband as a subject
• Triodenovo-SW — Device-Triodenovo-SW — Device - Triodenovo (Software)
• WES-FullSequencedRegion-GRCh38 — DocumentReference-WES_FullSequencedRegion_GRCh38 — DocumentReference - WES Full Sequenced Region - GRCh38