{"analysis":[{"changeType":[{"coding":[{"code":"SO:0001483","display":"SNV","system":"http://sequenceontology.org"}]},{"coding":[{"code":"SO:0002007","display":"MNV","system":"http://sequenceontology.org"}]},{"coding":[{"code":"SO:1000032","display":"delins","system":"http://sequenceontology.org"}]}],"date":"2019-03-01T01:01:10-06:00","device":[{"device":{"reference":"Device/NGS-device"},"function":{"coding":[{"display":"Next Generation Sequencing"}]}}],"genomeBuild":{"coding":[{"code":"LA26806-2","display":"GRCh38","system":"http://loinc.org"}]},"identifier":[{"system":"http://www.somesystemabc.net/identifiers/genomicAnalyses","use":"official","value":"urn:uuid:1111-1111-1111-1112"}],"methodType":[{"coding":[{"code":"117040002","display":"Nucleic acid sequencing (procedure)","system":"http://snomed.info/sct"}]}],"note":[{"text":"For technical reasons, PIK3CB was deemed uncallable using this method."}],"output":[{"file":{"reference":"DocumentReference/genomicVCFfile_simple"},"type":{"coding":[{"code":"vcf","display":"VCF"}]}}],"performer":[{"actor":{"reference":"Practitioner/practitioner02"},"role":{"coding":[{"code":"PRF","display":"Performer","system":"http://terminology.hl7.org/3.1.0/CodeSystem-v3-ParticipationType.html"}]}}],"regionsCalled":[{"reference":"DocumentReference/SimpleVariantAnalysis_called"}],"regionsStudied":[{"reference":"DocumentReference/WES_FullSequencedRegion_GRCh38"}],"specimen":[{"reference":"Specimen/genomicSpecimen"}],"title":"Simple variant analysis"},{"changeType":[{"coding":[{"code":"SO:0001019","display":"CNV","system":"http://sequenceontology.org"}]}],"date":"2019-03-01T01:01:10-06:00","genomeBuild":{"coding":[{"code":"LA26806-2","display":"GRCh38","system":"http://loinc.org"}]},"identifier":[{"system":"http://www.somesystemabc.net/identifiers/genomicAnalyses","use":"official","value":"urn:uuid:1111-1111-1111-1115"}],"methodType":[{"coding":[{"code":"117040002","display":"Nucleic acid sequencing (procedure)","system":"http://snomed.info/sct"}]}],"note":[{"text":"For technical reasons, PIK3CB was deemed uncallable using this method."}],"output":[{"file":{"reference":"DocumentReference/genomicVCFfile_cnv"},"type":{"coding":[{"code":"vcf","display":"VCF"}]}}],"performer":[{"actor":{"reference":"Practitioner/practitioner02"},"role":{"coding":[{"code":"PRF","display":"Performer","system":"http://terminology.hl7.org/3.1.0/CodeSystem-v3-ParticipationType.html"}]}}],"regionsCalled":[{"reference":"DocumentReference/CNVAnalysis_called"}],"regionsStudied":[{"reference":"DocumentReference/WES_FullSequencedRegion_GRCh38"}],"specimen":[{"reference":"Specimen/genomicSpecimen"}],"title":"CNV analysis"}],"basedOn":[{"reference":"ServiceRequest/genomicServiceRequest2"}],"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.","encounter":{"reference":"Encounter/genomicEncounter"},"id":"example-lungMass","identifier":[{"system":"http://www.somesystemabc.net/identifiers/genomicstudies","use":"temp","value":"urn:uuid:1111-1111-1111-1112"}],"interpreter":[{"reference":"Practitioner/practitioner02"}],"note":[{"text":"For technical reasons, PIK3CB was deemed uncallable."}],"reason":[{"concept":{"coding":[{"code":"309529002","display":"Lung mass (finding) ","system":"http://snomed.info/sct"}]}}],"referrer":{"reference":"Practitioner/practitioner01"},"resourceType":"GenomicStudy","startDate":"2019-03-01","status":"registered","subject":{"reference":"Patient/genomicPatient"},"text":{"div":"<div xmlns=\"http://www.w3.org/1999/xhtml\">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.</div>","status":"additional"},"type":[{"coding":[{"code":"443968007","display":"Whole Exome Sequencing - Sequencing of entire coding region of gene (procedure)","system":"http://snomed.info/sct"}]}]}