Genomics Reporting Implementation Guide
3.0.0 - release
Genomics Reporting Implementation Guide
3.0.0 - release
Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
{
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{
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"resource" : {
"resourceType" : "Patient",
"id" : "CG-IG-HLA-FullBundle-01-1",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Patient_CG-IG-HLA-FullBundle-01-1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Patient CG-IG-HLA-FullBundle-01-1</b></p><a name=\"CG-IG-HLA-FullBundle-01-1\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-1\"> </a><a name=\"CG-IG-HLA-FullBundle-01-1-en-US\"> </a><p style=\"border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;\">John Storm(official) Male, DoB: 1986-12-31 ( Donor Registration Number\u00a0(use:\u00a0usual,\u00a0period:\u00a02012-11-10 --> (ongoing)))</p><hr/></div>"
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"identifier" : [
{
"use" : "usual",
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"code" : "DR"
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"system" : "urn:oid:0.0.0.0.0.0.0",
"value" : "12345",
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"start" : "2012-11-10"
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"assigner" : {
"display" : "aDonorRegistry"
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],
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{
"use" : "official",
"text" : "John Storm",
"family" : "Storm",
"given" : [
"John"
]
},
{
"use" : "nickname",
"text" : "Johnny Storm",
"family" : "Storm",
"given" : [
"Johnny"
]
},
{
"use" : "nickname",
"text" : "The Human Torch"
}
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"gender" : "male",
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{
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"resource" : {
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"id" : "CG-IG-HLA-FullBundle-01-2",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Specimen_CG-IG-HLA-FullBundle-01-2\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Specimen CG-IG-HLA-FullBundle-01-2</b></p><a name=\"CG-IG-HLA-FullBundle-01-2\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-2\"> </a><a name=\"CG-IG-HLA-FullBundle-01-2-en-US\"> </a><p><b>identifier</b>: <code>http://myorgsurl.com</code>/123</p><p><b>accessionIdentifier</b>: <code>http://mylabsurl.com</code>/456</p><p><b>type</b>: <span title=\"Codes:{http://snomed.info/sct 122555007}\">Venous blood specimen</span></p><p><b>subject</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-13f34265-335c-4853-bc38-0815315edafa\">John Storm</a></p></div>"
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"identifier" : [
{
"system" : "http://myorgsurl.com",
"value" : "123"
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"accessionIdentifier" : {
"system" : "http://mylabsurl.com",
"value" : "456"
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"type" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "122555007",
"display" : "Venous blood specimen"
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"subject" : {
"reference" : "urn:uuid:13f34265-335c-4853-bc38-0815315edafa",
"type" : "Patient",
"display" : "John Storm"
}
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"request" : {
"method" : "POST",
"url" : "Specimen"
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{
"fullUrl" : "urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950",
"resource" : {
"resourceType" : "Organization",
"id" : "CG-IG-HLA-FullBundle-01-3",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Organization_CG-IG-HLA-FullBundle-01-3\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Organization CG-IG-HLA-FullBundle-01-3</b></p><a name=\"CG-IG-HLA-FullBundle-01-3\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-3\"> </a><a name=\"CG-IG-HLA-FullBundle-01-3-en-US\"> </a><p><b>name</b>: aTypingLab Inc</p><p><b>alias</b>: aTL</p><p><b>telecom</b>: ph: 1-800-555-1234(Work)</p><p><b>address</b>: 123 Main St, Sometown, ND 99999(work)</p></div>"
},
"name" : "aTypingLab Inc",
"alias" : [
"aTL"
],
"telecom" : [
{
"system" : "phone",
"value" : "1-800-555-1234",
"use" : "work",
"rank" : 1
}
],
"address" : [
{
"use" : "work",
"type" : "both",
"text" : "123 Main St, Sometown, ND 99999",
"line" : [
"123 Main St"
],
"city" : "Sometown",
"state" : "ND",
"postalCode" : "99999",
"country" : "USA"
}
]
},
"request" : {
"method" : "POST",
"url" : "Organization"
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},
{
"fullUrl" : "urn:uuid:00ef18ad-ed04-4b2c-81ee-b69bb243f0d5",
"resource" : {
"resourceType" : "Organization",
"id" : "CG-IG-HLA-FullBundle-01-4",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Organization_CG-IG-HLA-FullBundle-01-4\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Organization CG-IG-HLA-FullBundle-01-4</b></p><a name=\"CG-IG-HLA-FullBundle-01-4\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-4\"> </a><a name=\"CG-IG-HLA-FullBundle-01-4-en-US\"> </a><p><b>name</b>: aDonorRegistry</p><p><b>alias</b>: ADR</p><p><b>telecom</b>: ph: 1-800-555-6789(Work)</p><p><b>address</b>: 456 Main St, Anytown ND, 00000(work)</p></div>"
},
"name" : "aDonorRegistry",
"alias" : [
"ADR"
],
"telecom" : [
{
"system" : "phone",
"value" : "1-800-555-6789",
"use" : "work",
"rank" : 1
}
],
"address" : [
{
"use" : "work",
"type" : "both",
"text" : "456 Main St, Anytown ND, 00000",
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"456 Main St"
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"city" : "Anytown",
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"postalCode" : "00000",
"country" : "USA"
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"method" : "POST",
"url" : "Organization"
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{
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"resource" : {
"resourceType" : "ServiceRequest",
"id" : "CG-IG-HLA-FullBundle-01-5",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"ServiceRequest_CG-IG-HLA-FullBundle-01-5\"> </a><p class=\"res-header-id\"><b>Generated Narrative: ServiceRequest CG-IG-HLA-FullBundle-01-5</b></p><a name=\"CG-IG-HLA-FullBundle-01-5\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-5\"> </a><a name=\"CG-IG-HLA-FullBundle-01-5-en-US\"> </a><p><b>status</b>: Completed</p><p><b>intent</b>: Order</p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 13303-3}\">HLA-A+B+C (class I) [Type]</span></p><p><b>subject</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-13f34265-335c-4853-bc38-0815315edafa\">John Storm</a></p><p><b>authoredOn</b>: 2016-11-15</p><p><b>requester</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-00ef18ad-ed04-4b2c-81ee-b69bb243f0d5\">aDonorRegistry</a></p><p><b>performer</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-9243cc20-27bd-4f87-ba90-0328ed474950\">aTypingLab, Inc</a></p><p><b>reasonCode</b>: <span title=\"Codes:\">tissue typing for donor registry</span></p></div>"
},
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"intent" : "order",
"code" : {
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{
"system" : "http://loinc.org",
"code" : "13303-3",
"display" : "HLA-A+B+C (class I) [Type]"
}
]
},
"subject" : {
"reference" : "urn:uuid:13f34265-335c-4853-bc38-0815315edafa",
"type" : "Patient",
"display" : "John Storm"
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"authoredOn" : "2016-11-15",
"requester" : {
"reference" : "urn:uuid:00ef18ad-ed04-4b2c-81ee-b69bb243f0d5",
"type" : "Organization",
"display" : "aDonorRegistry"
},
"performer" : [
{
"reference" : "urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950",
"type" : "Organization",
"display" : "aTypingLab, Inc"
}
],
"reasonCode" : [
{
"text" : "tissue typing for donor registry"
}
]
},
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"method" : "POST",
"url" : "ServiceRequest"
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},
{
"fullUrl" : "urn:uuid:8200dab6-18a2-4550-b913-a7db480c0804",
"resource" : {
"resourceType" : "MolecularSequence",
"id" : "CG-IG-HLA-FullBundle-01-6",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"MolecularSequence_CG-IG-HLA-FullBundle-01-6\"> </a><p class=\"res-header-id\"><b>Generated Narrative: MolecularSequence CG-IG-HLA-FullBundle-01-6</b></p><a name=\"CG-IG-HLA-FullBundle-01-6\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-6\"> </a><a name=\"CG-IG-HLA-FullBundle-01-6-en-US\"> </a><p><b>type</b>: DNA Sequence</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HLA00001}\">HLA-A*01:01:01:01</span></td><td>503</td><td>773</td></tr></table><p><b>observedSeq</b>: GCTCCCACTCCATGAGGTATTTCTTCACATCCGTGTCCCGGCCCGGCCGCGGGGAGCCCCGCTTCATCGCCGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGCCAGAAGATGGAGCCGCGGGCGCCGTGGATAGAGCAGGAGGGGCCGGAGTATTGGGACCAGGAGACACGGAATATGAAGGCCCACTCACAGACTGACCGAGCGAACCTGGGGACCCTGCGCGGCTACTACAACCAGAGCGAGGACG</p></div>"
},
"type" : "dna",
"coordinateSystem" : 0,
"referenceSeq" : {
"referenceSeqId" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA00001"
}
],
"text" : "HLA-A*01:01:01:01"
},
"windowStart" : 503,
"windowEnd" : 773
},
"observedSeq" : "GCTCCCACTCCATGAGGTATTTCTTCACATCCGTGTCCCGGCCCGGCCGCGGGGAGCCCCGCTTCATCGCCGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGCCAGAAGATGGAGCCGCGGGCGCCGTGGATAGAGCAGGAGGGGCCGGAGTATTGGGACCAGGAGACACGGAATATGAAGGCCCACTCACAGACTGACCGAGCGAACCTGGGGACCCTGCGCGGCTACTACAACCAGAGCGAGGACG"
},
"request" : {
"method" : "POST",
"url" : "MolecularSequence"
}
},
{
"fullUrl" : "urn:uuid:7c393185-f15c-45bc-a714-c0fdbea32675",
"resource" : {
"resourceType" : "MolecularSequence",
"id" : "CG-IG-HLA-FullBundle-01-7",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"MolecularSequence_CG-IG-HLA-FullBundle-01-7\"> </a><p class=\"res-header-id\"><b>Generated Narrative: MolecularSequence CG-IG-HLA-FullBundle-01-7</b></p><a name=\"CG-IG-HLA-FullBundle-01-7\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-7\"> </a><a name=\"CG-IG-HLA-FullBundle-01-7-en-US\"> </a><p><b>type</b>: DNA Sequence</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HLA00001}\">HLA-A*01:01:01:01</span></td><td>1014</td><td>1290</td></tr></table><p><b>observedSeq</b>: GTTCTCACACCATCCAGATAATGTATGGCTGCGACGTGGGGCCGGACGGGCGCTTCCTCCGCGGGTACCGGCAGGACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGCGCTCTTGGACCGCGGCGGACATGGCAGCTCAGATCACCAAGCGCAAGTGGGAGGCGGTCCATGCGGCGGAGCAGCGGAGAGTCTACCTGGAGGGCCGGTGCGTGGACGGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCACGG</p></div>"
},
"type" : "dna",
"coordinateSystem" : 0,
"referenceSeq" : {
"referenceSeqId" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA00001"
}
],
"text" : "HLA-A*01:01:01:01"
},
"windowStart" : 1014,
"windowEnd" : 1290
},
"observedSeq" : "GTTCTCACACCATCCAGATAATGTATGGCTGCGACGTGGGGCCGGACGGGCGCTTCCTCCGCGGGTACCGGCAGGACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGCGCTCTTGGACCGCGGCGGACATGGCAGCTCAGATCACCAAGCGCAAGTGGGAGGCGGTCCATGCGGCGGAGCAGCGGAGAGTCTACCTGGAGGGCCGGTGCGTGGACGGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCACGG"
},
"request" : {
"method" : "POST",
"url" : "MolecularSequence"
}
},
{
"fullUrl" : "urn:uuid:65c85f14-c3a0-4b72-818f-820e04fcc621",
"resource" : {
"resourceType" : "MolecularSequence",
"id" : "CG-IG-HLA-FullBundle-01-8",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"MolecularSequence_CG-IG-HLA-FullBundle-01-8\"> </a><p class=\"res-header-id\"><b>Generated Narrative: MolecularSequence CG-IG-HLA-FullBundle-01-8</b></p><a name=\"CG-IG-HLA-FullBundle-01-8\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-8\"> </a><a name=\"CG-IG-HLA-FullBundle-01-8-en-US\"> </a><p><b>type</b>: DNA Sequence</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HLA00002}\">HLA-A*01:02</span></td><td>503</td><td>773</td></tr></table><p><b>observedSeq</b>: GCTCCCACTCCATGAGGTATTTCTCCACATCCGTGTCCCGGCCCGGCAGTGGAGAGCCCCGCTTCATCGCAGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGCCAGAAGATGGAGCCGCGGGCGCCGTGGATAGAGCAGGAGGGGCCGGAGTATTGGGACCAGGAGACACGGAATATGAAGGCCCACTCACAGACTGACCGAGCGAACCTGGGGACCCTGCGCGGCTACTACAACCAGAGCGAGGACG</p></div>"
},
"type" : "dna",
"coordinateSystem" : 0,
"referenceSeq" : {
"referenceSeqId" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA00002"
}
],
"text" : "HLA-A*01:02"
},
"windowStart" : 503,
"windowEnd" : 773
},
"observedSeq" : "GCTCCCACTCCATGAGGTATTTCTCCACATCCGTGTCCCGGCCCGGCAGTGGAGAGCCCCGCTTCATCGCAGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGCCAGAAGATGGAGCCGCGGGCGCCGTGGATAGAGCAGGAGGGGCCGGAGTATTGGGACCAGGAGACACGGAATATGAAGGCCCACTCACAGACTGACCGAGCGAACCTGGGGACCCTGCGCGGCTACTACAACCAGAGCGAGGACG"
},
"request" : {
"method" : "POST",
"url" : "MolecularSequence"
}
},
{
"fullUrl" : "urn:uuid:fbba9fe7-0ece-4ec1-9233-a437a8d242a0",
"resource" : {
"resourceType" : "MolecularSequence",
"id" : "CG-IG-HLA-FullBundle-01-9",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"MolecularSequence_CG-IG-HLA-FullBundle-01-9\"> </a><p class=\"res-header-id\"><b>Generated Narrative: MolecularSequence CG-IG-HLA-FullBundle-01-9</b></p><a name=\"CG-IG-HLA-FullBundle-01-9\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-9\"> </a><a name=\"CG-IG-HLA-FullBundle-01-9-en-US\"> </a><p><b>type</b>: DNA Sequence</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HLA00002}\">HLA-A*01:02</span></td><td>1014</td><td>1290</td></tr></table><p><b>observedSeq</b>: GTTCTCACACCATCCAGATAATGTATGGCTGCGACGTGGGGCCGGACGGGCGCTTCCTCCGCGGGTACCGGCAGGACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGCGCTCTTGGACCGCGGCGGACATGGCAGCTCAGATCACCAAGCGCAAGTGGGAGGCGGTCCATGCGGCGGAGCAGCGGAGAGTCTACCTGGAGGGCCGGTGCGTGGACGGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCACGG</p></div>"
},
"type" : "dna",
"coordinateSystem" : 0,
"referenceSeq" : {
"referenceSeqId" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA00002"
}
],
"text" : "HLA-A*01:02"
},
"windowStart" : 1014,
"windowEnd" : 1290
},
"observedSeq" : "GTTCTCACACCATCCAGATAATGTATGGCTGCGACGTGGGGCCGGACGGGCGCTTCCTCCGCGGGTACCGGCAGGACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGCGCTCTTGGACCGCGGCGGACATGGCAGCTCAGATCACCAAGCGCAAGTGGGAGGCGGTCCATGCGGCGGAGCAGCGGAGAGTCTACCTGGAGGGCCGGTGCGTGGACGGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCACGG"
},
"request" : {
"method" : "POST",
"url" : "MolecularSequence"
}
},
{
"fullUrl" : "urn:uuid:b7765bbf-df40-486a-9f2f-404309643de6",
"resource" : {
"resourceType" : "Observation",
"id" : "CG-IG-HLA-FullBundle-01-10",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_CG-IG-HLA-FullBundle-01-10\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation CG-IG-HLA-FullBundle-01-10</b></p><a name=\"CG-IG-HLA-FullBundle-01-10\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-10\"> </a><a name=\"CG-IG-HLA-FullBundle-01-10-en-US\"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 84414-2}\">Haplotype name</span></p><p><b>subject</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-13f34265-335c-4853-bc38-0815315edafa\">John Storm</a></p><p><b>effective</b>: 2016-12-15</p><p><b>performer</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-9243cc20-27bd-4f87-ba90-0328ed474950\">aTypingLab, Inc</a></p><p><b>value</b>: <span title=\"Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HLA-A*01:01:01G}\">HLA-A*01:01:01G</span></p><p><b>method</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/gtr GTR000000000.0}\">NGS based Class I HLA-A, -B, -C genotyping</span></p><p><b>specimen</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-e44fbe33-6084-4ae2-a95e-8bc451c63340\">buccal swab from John Storm</a></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-8200dab6-18a2-4550-b913-a7db480c0804\">HLA-A*01:01:01:01, exon 2</a></li><li><a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-7c393185-f15c-45bc-a714-c0fdbea32675\">HLA-A*01:01:01:01, exon 3</a></li></ul><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></td><td><span title=\"Codes:{http://www.genenames.org HGNC:4931}\">HLA-A</span></td></tr></table></div>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
},
{
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],
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"type" : "Patient",
"display" : "John Storm"
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"resource" : {
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"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype"
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"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_CG-IG-HLA-FullBundle-01-11\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation CG-IG-HLA-FullBundle-01-11</b></p><a name=\"CG-IG-HLA-FullBundle-01-11\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-11\"> </a><a name=\"CG-IG-HLA-FullBundle-01-11-en-US\"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 84414-2}\">Haplotype name</span></p><p><b>subject</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-13f34265-335c-4853-bc38-0815315edafa\">John Storm</a></p><p><b>effective</b>: 2016-12-15</p><p><b>performer</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-9243cc20-27bd-4f87-ba90-0328ed474950\">aTypingLab, Inc</a></p><p><b>value</b>: <span title=\"Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HLA-A*01:02}\">HLA-A*01:02</span></p><p><b>method</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/gtr GTR000000000.0}\">NGS based Class I HLA-A, -B, -C genotyping</span></p><p><b>specimen</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-e44fbe33-6084-4ae2-a95e-8bc451c63340\">buccal swab from John Storm</a></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-65c85f14-c3a0-4b72-818f-820e04fcc621\">HLA-A*01:02, exon 2</a></li><li><a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-fbba9fe7-0ece-4ec1-9233-a437a8d242a0\">HLA-A*01:02, exon 3</a></li></ul><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></td><td><span title=\"Codes:{http://www.genenames.org HGNC:4931}\">HLA-A</span></td></tr></table></div>"
},
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]
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"coding" : [
{
"system" : "http://loinc.org",
"code" : "84414-2",
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},
"subject" : {
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],
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{
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🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"
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"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_CG-IG-HLA-FullBundle-01-12\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation CG-IG-HLA-FullBundle-01-12</b></p><a name=\"CG-IG-HLA-FullBundle-01-12\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-12\"> </a><a name=\"CG-IG-HLA-FullBundle-01-12-en-US\"> </a><p><b>basedOn</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-99309303-045e-4cf4-90d7-250d7a7476ea\">Class I HLA genotyping for John Storm</a></p><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 84413-4}\">Genotype display name</span></p><p><b>subject</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-13f34265-335c-4853-bc38-0815315edafa\">John Storm</a></p><p><b>effective</b>: 2016-12-15</p><p><b>performer</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-9243cc20-27bd-4f87-ba90-0328ed474950\">aTypingLab, Inc</a></p><p><b>value</b>: <span title=\"Codes:{http://glstring.org hla#3.23.0#HLA-A:01:01G+HLA-A*01:02}\">hla#3.23.0#HLA-A:01:01G+HLA-A*01:02</span></p><p><b>method</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/gtr GTR000000000.0}\">NGS based Class I HLA-A, -B, -C genotyping</span></p><p><b>specimen</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-e44fbe33-6084-4ae2-a95e-8bc451c63340\">buccal swab from John Storm</a></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-b7765bbf-df40-486a-9f2f-404309643de6\">HLA-A*01:01:01G, exons 2 and 3</a></li><li><a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-d98d92a7-0e86-4ae5-b036-b7e1bba6ec32\">HLA-A*01:02, exons 2 and 3</a></li></ul><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></td><td><span title=\"Codes:{http://www.genenames.org HGNC:4931}\">HLA-A</span></td></tr></table></div>"
},
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{
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"type" : "ServiceRequest",
"display" : "Class I HLA genotyping for John Storm"
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],
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{
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]
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{
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"code" : {
"coding" : [
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"code" : "84413-4",
"display" : "Genotype display name"
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},
{
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"resource" : {
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"id" : "CG-IG-HLA-FullBundle-01-13",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"MolecularSequence_CG-IG-HLA-FullBundle-01-13\"> </a><p class=\"res-header-id\"><b>Generated Narrative: MolecularSequence CG-IG-HLA-FullBundle-01-13</b></p><a name=\"CG-IG-HLA-FullBundle-01-13\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-13\"> </a><a name=\"CG-IG-HLA-FullBundle-01-13-en-US\"> </a><p><b>type</b>: DNA Sequence</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HLA00162}\">HLA-B*15:01:01:01</span></td><td>486</td><td>756</td></tr></table><p><b>observedSeq</b>: GCTCCCACTCCATGAGGTATTTCTACACCGCCATGTCCCGGCCCGGCCGCGGGGAGCCCCGCTTCATCGCAGTGGGCTACGTGGACGACACCCAGTTCGTGAGGTTCGACAGCGACGCCGCGAGTCCGAGGATGGCGCCCCGGGCGCCATGGATAGAGCAGGAGGGGCCGGAGTATTGGGACCGGGAGACACAGATCTCCAAGACCAACACACAGACTTACCGAGAGAGCCTGCGGAACCTGCGCGGCTACTACAACCAGAGCGAGGCCG</p></div>"
},
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"referenceSeq" : {
"referenceSeqId" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA00162"
}
],
"text" : "HLA-B*15:01:01:01"
},
"windowStart" : 486,
"windowEnd" : 756
},
"observedSeq" : "GCTCCCACTCCATGAGGTATTTCTACACCGCCATGTCCCGGCCCGGCCGCGGGGAGCCCCGCTTCATCGCAGTGGGCTACGTGGACGACACCCAGTTCGTGAGGTTCGACAGCGACGCCGCGAGTCCGAGGATGGCGCCCCGGGCGCCATGGATAGAGCAGGAGGGGCCGGAGTATTGGGACCGGGAGACACAGATCTCCAAGACCAACACACAGACTTACCGAGAGAGCCTGCGGAACCTGCGCGGCTACTACAACCAGAGCGAGGCCG"
},
"request" : {
"method" : "POST",
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}
},
{
"fullUrl" : "urn:uuid:c233ad3d-1572-48d6-93da-0a583535e138",
"resource" : {
"resourceType" : "MolecularSequence",
"id" : "CG-IG-HLA-FullBundle-01-14",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"MolecularSequence_CG-IG-HLA-FullBundle-01-14\"> </a><p class=\"res-header-id\"><b>Generated Narrative: MolecularSequence CG-IG-HLA-FullBundle-01-14</b></p><a name=\"CG-IG-HLA-FullBundle-01-14\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-14\"> </a><a name=\"CG-IG-HLA-FullBundle-01-14-en-US\"> </a><p><b>type</b>: DNA Sequence</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HLA00162}\">HLA-B*15:01:01:01</span></td><td>1001</td><td>1277</td></tr></table><p><b>observedSeq</b>: GGTCTCACACCCTCCAGAGGATGTACGGCTGCGACGTGGGGCCGGACGGGCGCCTCCTCCGCGGGCATGACCAGTCCGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGAGCTCCTGGACCGCGGCGGACACGGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGAGGCGGAGCAGTGGAGAGCCTACCTGGAGGGCCTGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCGCGG</p></div>"
},
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"referenceSeq" : {
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"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA00162"
}
],
"text" : "HLA-B*15:01:01:01"
},
"windowStart" : 1001,
"windowEnd" : 1277
},
"observedSeq" : "GGTCTCACACCCTCCAGAGGATGTACGGCTGCGACGTGGGGCCGGACGGGCGCCTCCTCCGCGGGCATGACCAGTCCGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGAGCTCCTGGACCGCGGCGGACACGGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGAGGCGGAGCAGTGGAGAGCCTACCTGGAGGGCCTGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCGCGG"
},
"request" : {
"method" : "POST",
"url" : "MolecularSequence"
}
},
{
"fullUrl" : "urn:uuid:05fa52d7-5c67-460a-8722-d3460b24d6fe",
"resource" : {
"resourceType" : "MolecularSequence",
"id" : "CG-IG-HLA-FullBundle-01-15",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"MolecularSequence_CG-IG-HLA-FullBundle-01-15\"> </a><p class=\"res-header-id\"><b>Generated Narrative: MolecularSequence CG-IG-HLA-FullBundle-01-15</b></p><a name=\"CG-IG-HLA-FullBundle-01-15\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-15\"> </a><a name=\"CG-IG-HLA-FullBundle-01-15-en-US\"> </a><p><b>type</b>: DNA Sequence</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HLA00381}\">HLA-B*57:01:01</span></td><td>485</td><td>755</td></tr></table><p><b>observedSeq</b>: GCTCCCACTCCATGAGGTATTTCTACACCGCCATGTCCCGGCCCGGCCGCGGGGAGCCCCGCTTCATCGCAGTGGGCTACGTGGACGACACCCAGTTCGTGAGGTTCGACAGCGACGCCGCGAGTCCGAGGATGGCGCCCCGGGCGCCATGGATAGAGCAGGAGGGGCCGGAGTATTGGGACGGGGAGACACGGAACATGAAGGCCTCCGCGCAGACTTACCGAGAGAACCTGCGGATCGCGCTCCGCTACTACAACCAGAGCGAGGCCG</p></div>"
},
"type" : "dna",
"coordinateSystem" : 0,
"referenceSeq" : {
"referenceSeqId" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA00381"
}
],
"text" : "HLA-B*57:01:01"
},
"windowStart" : 485,
"windowEnd" : 755
},
"observedSeq" : "GCTCCCACTCCATGAGGTATTTCTACACCGCCATGTCCCGGCCCGGCCGCGGGGAGCCCCGCTTCATCGCAGTGGGCTACGTGGACGACACCCAGTTCGTGAGGTTCGACAGCGACGCCGCGAGTCCGAGGATGGCGCCCCGGGCGCCATGGATAGAGCAGGAGGGGCCGGAGTATTGGGACGGGGAGACACGGAACATGAAGGCCTCCGCGCAGACTTACCGAGAGAACCTGCGGATCGCGCTCCGCTACTACAACCAGAGCGAGGCCG"
},
"request" : {
"method" : "POST",
"url" : "MolecularSequence"
}
},
{
"fullUrl" : "urn:uuid:db69e549-6267-4777-b4b9-8813f3329309",
"resource" : {
"resourceType" : "MolecularSequence",
"id" : "CG-IG-HLA-FullBundle-01-16",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"MolecularSequence_CG-IG-HLA-FullBundle-01-16\"> </a><p class=\"res-header-id\"><b>Generated Narrative: MolecularSequence CG-IG-HLA-FullBundle-01-16</b></p><a name=\"CG-IG-HLA-FullBundle-01-16\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-16\"> </a><a name=\"CG-IG-HLA-FullBundle-01-16-en-US\"> </a><p><b>type</b>: DNA Sequence</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HLA00381}\">HLA-B*57:01:01</span></td><td>1001</td><td>1277</td></tr></table><p><b>observedSeq</b>: GGTCTCACATCATCCAGGTGATGTATGGCTGCGACGTGGGGCCGGACGGGCGCCTCCTCCGCGGGCATGACCAGTCCGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGAGCTCCTGGACCGCGGCGGACACGGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGTGGCGGAGCAGCTGAGAGCCTACCTGGAGGGCCTGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCGCGG</p></div>"
},
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{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
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}
],
"text" : "HLA-B*57:01:01"
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"observedSeq" : "GGTCTCACATCATCCAGGTGATGTATGGCTGCGACGTGGGGCCGGACGGGCGCCTCCTCCGCGGGCATGACCAGTCCGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGAGCTCCTGGACCGCGGCGGACACGGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGTGGCGGAGCAGCTGAGAGCCTACCTGGAGGGCCTGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCGCGG"
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{
"fullUrl" : "urn:uuid:e2092243-2970-49d2-a90f-b90d1d49715a",
"resource" : {
"resourceType" : "Observation",
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"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype"
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},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_CG-IG-HLA-FullBundle-01-17\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation CG-IG-HLA-FullBundle-01-17</b></p><a name=\"CG-IG-HLA-FullBundle-01-17\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-17\"> </a><a name=\"CG-IG-HLA-FullBundle-01-17-en-US\"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 84414-2}\">Haplotype name</span></p><p><b>subject</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-13f34265-335c-4853-bc38-0815315edafa\">John Storm</a></p><p><b>effective</b>: 2016-12-15</p><p><b>performer</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-9243cc20-27bd-4f87-ba90-0328ed474950\">aTypingLab, Inc</a></p><p><b>value</b>: <span title=\"Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HGG00041}\">HLA-B*15:01:01G</span></p><p><b>method</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/gtr GTR000000000.0}\">NGS based Class I HLA-A, -B, -C genotyping</span></p><p><b>specimen</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-e44fbe33-6084-4ae2-a95e-8bc451c63340\">buccal swab from John Storm</a></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-cbabf93e-1b4b-46f2-ba1e-d84862670670\">HLA-B*15:01:01:01, exon 2</a></li><li><a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-c233ad3d-1572-48d6-93da-0a583535e138\">HLA-B*15:01:01:01, exon 3</a></li></ul><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></td><td><span title=\"Codes:{http://www.genenames.org HGNC:4932}\">HLA-B</span></td></tr></table></div>"
},
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{
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{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
"code" : "GE"
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]
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],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
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]
},
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"system" : "http://www.ncbi.nlm.nih.gov/gtr",
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],
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],
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"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype"
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"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_CG-IG-HLA-FullBundle-01-18\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation CG-IG-HLA-FullBundle-01-18</b></p><a name=\"CG-IG-HLA-FullBundle-01-18\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-18\"> </a><a name=\"CG-IG-HLA-FullBundle-01-18-en-US\"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 84414-2}\">Haplotype name</span></p><p><b>subject</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-13f34265-335c-4853-bc38-0815315edafa\">John Storm</a></p><p><b>effective</b>: 2016-12-15</p><p><b>performer</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-9243cc20-27bd-4f87-ba90-0328ed474950\">aTypingLab, Inc</a></p><p><b>value</b>: <span title=\"Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HLA-B*57:01:01G}\">HLA-B*57:01:01G</span></p><p><b>method</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/gtr GTR000000000.0}\">NGS based Class I HLA-A, -B, -C genotyping</span></p><p><b>specimen</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-e44fbe33-6084-4ae2-a95e-8bc451c63340\">buccal swab from John Storm</a></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-05fa52d7-5c67-460a-8722-d3460b24d6fe\">HLA-B*57:01:01, exon 2</a></li><li><a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-db69e549-6267-4777-b4b9-8813f3329309\">HLA-B*57:01:01, exon 3</a></li></ul><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></td><td><span title=\"Codes:{http://www.genenames.org HGNC:4932}\">HLA-B</span></td></tr></table></div>"
},
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"category" : [
{
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]
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],
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"coding" : [
{
"system" : "http://loinc.org",
"code" : "84414-2",
"display" : "Haplotype name"
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]
},
"subject" : {
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"type" : "Patient",
"display" : "John Storm"
},
"effectiveDateTime" : "2016-12-15",
"performer" : [
{
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{
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],
"component" : [
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"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"
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},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_CG-IG-HLA-FullBundle-01-19\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation CG-IG-HLA-FullBundle-01-19</b></p><a name=\"CG-IG-HLA-FullBundle-01-19\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-19\"> </a><a name=\"CG-IG-HLA-FullBundle-01-19-en-US\"> </a><p><b>basedOn</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-99309303-045e-4cf4-90d7-250d7a7476ea\">Class I HLA genotyping for John Storm</a></p><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 84413-4}\">Genotype display name</span></p><p><b>subject</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-13f34265-335c-4853-bc38-0815315edafa\">John Storm</a></p><p><b>effective</b>: 2016-12-15</p><p><b>performer</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-9243cc20-27bd-4f87-ba90-0328ed474950\">aTypingLab, Inc</a></p><p><b>value</b>: <span title=\"Codes:{http://glstring.org hla#3.23.0#HLA-B*15:01:01G+HLA-B*57:01:01G}\">hla#3.23.0#HLA-B*15:01:01G+HLA-B*57:01:01G</span></p><p><b>method</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/gtr GTR000000000.0}\">NGS based Class I HLA-A, -B, -C genotyping</span></p><p><b>specimen</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-e44fbe33-6084-4ae2-a95e-8bc451c63340\">buccal swab from John Storm</a></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-e2092243-2970-49d2-a90f-b90d1d49715a\">HLA-B*15:01:01G, exons 2 and 3</a></li><li><a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-792be53e-d4fb-4887-a367-815ef6c706e5\">HLA-B*57:01:01G, exons 2 and 3</a></li></ul><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></td><td><span title=\"Codes:{http://www.genenames.org HGNC:4932}\">HLA-B</span></td></tr></table></div>"
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{
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],
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"category" : [
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"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"MolecularSequence_CG-IG-HLA-FullBundle-01-20\"> </a><p class=\"res-header-id\"><b>Generated Narrative: MolecularSequence CG-IG-HLA-FullBundle-01-20</b></p><a name=\"CG-IG-HLA-FullBundle-01-20\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-20\"> </a><a name=\"CG-IG-HLA-FullBundle-01-20-en-US\"> </a><p><b>type</b>: DNA Sequence</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HLA00401}\">HLA-C*01:02:01</span></td><td>486</td><td>756</td></tr></table><p><b>observedSeq</b>: GCTCCCACTCCATGAAGTATTTCTTCACATCCGTGTCCCGGCCTGGCCGCGGAGAGCCCCGCTTCATCTCAGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGTCCGAGAGGGGAGCCGCGGGCGCCGTGGGTGGAGCAGGAGGGGCCGGAGTATTGGGACCGGGAGACACAGAAGTACAAGCGCCAGGCACAGACTGACCGAGTGAGCCTGCGGAACCTGCGCGGCTACTACAACCAGAGCGAGGCCG</p></div>"
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{
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}
],
"text" : "HLA-C*01:02:01"
},
"windowStart" : 486,
"windowEnd" : 756
},
"observedSeq" : "GCTCCCACTCCATGAAGTATTTCTTCACATCCGTGTCCCGGCCTGGCCGCGGAGAGCCCCGCTTCATCTCAGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGTCCGAGAGGGGAGCCGCGGGCGCCGTGGGTGGAGCAGGAGGGGCCGGAGTATTGGGACCGGGAGACACAGAAGTACAAGCGCCAGGCACAGACTGACCGAGTGAGCCTGCGGAACCTGCGCGGCTACTACAACCAGAGCGAGGCCG"
},
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{
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"resource" : {
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"id" : "CG-IG-HLA-FullBundle-01-21",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"MolecularSequence_CG-IG-HLA-FullBundle-01-21\"> </a><p class=\"res-header-id\"><b>Generated Narrative: MolecularSequence CG-IG-HLA-FullBundle-01-21</b></p><a name=\"CG-IG-HLA-FullBundle-01-21\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-21\"> </a><a name=\"CG-IG-HLA-FullBundle-01-21-en-US\"> </a><p><b>type</b>: DNA Sequence</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HLA00401}\">HLA-C*01:02:01</span></td><td>1002</td><td>1278</td></tr></table><p><b>observedSeq</b>: GGTCTCACACCCTCCAGTGGATGTGTGGCTGCGACCTGGGGCCCGACGGGCGCCTCCTCCGCGGGTATGACCAGTACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGCGCTCCTGGACCGCCGCGGACACCGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGAGGCGGAGCAGCGGAGAGCCTACCTGGAGGGCACGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCGCGG</p></div>"
},
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{
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"code" : "HLA00401"
}
],
"text" : "HLA-C*01:02:01"
},
"windowStart" : 1002,
"windowEnd" : 1278
},
"observedSeq" : "GGTCTCACACCCTCCAGTGGATGTGTGGCTGCGACCTGGGGCCCGACGGGCGCCTCCTCCGCGGGTATGACCAGTACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGCGCTCCTGGACCGCCGCGGACACCGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGAGGCGGAGCAGCGGAGAGCCTACCTGGAGGGCACGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCGCGG"
},
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"url" : "MolecularSequence"
}
},
{
"fullUrl" : "urn:uuid:2ae2ff34-279e-43c2-9018-b054fd3fc1ce",
"resource" : {
"resourceType" : "MolecularSequence",
"id" : "CG-IG-HLA-FullBundle-01-22",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"MolecularSequence_CG-IG-HLA-FullBundle-01-22\"> </a><p class=\"res-header-id\"><b>Generated Narrative: MolecularSequence CG-IG-HLA-FullBundle-01-22</b></p><a name=\"CG-IG-HLA-FullBundle-01-22\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-22\"> </a><a name=\"CG-IG-HLA-FullBundle-01-22-en-US\"> </a><p><b>type</b>: DNA Sequence</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HLA00413}\">HLA-C*03:04:01:01</span></td><td>486</td><td>756</td></tr></table><p><b>observedSeq</b>: GCTCCCACTCCATGAGGTATTTCTACACCGCTGTGTCCCGGCCCGGCCGCGGGGAGCCCCACTTCATCGCAGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGTCCGAGAGGGGAGCCGCGGGCGCCGTGGGTGGAGCAGGAGGGGCCGGAGTATTGGGACCGGGAGACACAGAAGTACAAGCGCCAGGCACAGACTGACCGAGTGAGCCTGCGGAACCTGCGCGGCTACTACAACCAGAGCGAGGCCG</p></div>"
},
"type" : "dna",
"coordinateSystem" : 0,
"referenceSeq" : {
"referenceSeqId" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA00413"
}
],
"text" : "HLA-C*03:04:01:01"
},
"windowStart" : 486,
"windowEnd" : 756
},
"observedSeq" : "GCTCCCACTCCATGAGGTATTTCTACACCGCTGTGTCCCGGCCCGGCCGCGGGGAGCCCCACTTCATCGCAGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGTCCGAGAGGGGAGCCGCGGGCGCCGTGGGTGGAGCAGGAGGGGCCGGAGTATTGGGACCGGGAGACACAGAAGTACAAGCGCCAGGCACAGACTGACCGAGTGAGCCTGCGGAACCTGCGCGGCTACTACAACCAGAGCGAGGCCG"
},
"request" : {
"method" : "POST",
"url" : "MolecularSequence"
}
},
{
"fullUrl" : "urn:uuid:19153ef1-68c6-47a2-9676-c4eefbd39af9",
"resource" : {
"resourceType" : "MolecularSequence",
"id" : "CG-IG-HLA-FullBundle-01-23",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"MolecularSequence_CG-IG-HLA-FullBundle-01-23\"> </a><p class=\"res-header-id\"><b>Generated Narrative: MolecularSequence CG-IG-HLA-FullBundle-01-23</b></p><a name=\"CG-IG-HLA-FullBundle-01-23\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-23\"> </a><a name=\"CG-IG-HLA-FullBundle-01-23-en-US\"> </a><p><b>type</b>: DNA Sequence</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HLA00413}\">HLA-C*03:04:01:01</span></td><td>1001</td><td>1277</td></tr></table><p><b>observedSeq</b>: GGTCTCACATCATCCAGAGGATGTATGGCTGCGACGTGGGGCCCGACGGGCGCCTCCTCCGCGGGTATGACCAGTACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGATCTGCGCTCCTGGACCGCCGCGGACACGGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGAGGCGGAGCAGCTGAGAGCCTACCTGGAGGGCCTGTGCGTGGAGTGGCTCCGCAGATACCTGAAGAATGGGAAGGAGACGCTGCAGCGCGCGG</p></div>"
},
"type" : "dna",
"coordinateSystem" : 0,
"referenceSeq" : {
"referenceSeqId" : {
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{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
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}
],
"text" : "HLA-C*03:04:01:01"
},
"windowStart" : 1001,
"windowEnd" : 1277
},
"observedSeq" : "GGTCTCACATCATCCAGAGGATGTATGGCTGCGACGTGGGGCCCGACGGGCGCCTCCTCCGCGGGTATGACCAGTACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGATCTGCGCTCCTGGACCGCCGCGGACACGGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGAGGCGGAGCAGCTGAGAGCCTACCTGGAGGGCCTGTGCGTGGAGTGGCTCCGCAGATACCTGAAGAATGGGAAGGAGACGCTGCAGCGCGCGG"
},
"request" : {
"method" : "POST",
"url" : "MolecularSequence"
}
},
{
"fullUrl" : "urn:uuid:709c5315-9403-4867-9d82-0b953836665f",
"resource" : {
"resourceType" : "Observation",
"id" : "CG-IG-HLA-FullBundle-01-24",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_CG-IG-HLA-FullBundle-01-24\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation CG-IG-HLA-FullBundle-01-24</b></p><a name=\"CG-IG-HLA-FullBundle-01-24\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-24\"> </a><a name=\"CG-IG-HLA-FullBundle-01-24-en-US\"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 84414-2}\">Haplotype name</span></p><p><b>subject</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-13f34265-335c-4853-bc38-0815315edafa\">John Storm</a></p><p><b>effective</b>: 2016-12-15</p><p><b>performer</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-9243cc20-27bd-4f87-ba90-0328ed474950\">aTypingLab, Inc</a></p><p><b>value</b>: <span title=\"Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HLA-C*01:02:01G}\">HLA-C*01:02:01G</span></p><p><b>method</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/gtr GTR000000000.0}\">NGS based Class I HLA-A, -B, -C genotyping</span></p><p><b>specimen</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-e44fbe33-6084-4ae2-a95e-8bc451c63340\">buccal swab from John Storm</a></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-bb55c2bc-5ad2-4bc1-8ff3-c407d06b12d0\">HLA-C*01:02:01, exon 2</a></li><li><a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-46938bb2-0486-4e87-bfd3-89aab2d5e22f\">HLA-C*01:02:01, exon 3</a></li></ul><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></td><td><span title=\"Codes:{http://www.genenames.org HGNC:4933}\">HLA-C</span></td></tr></table></div>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
},
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
"code" : "GE"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "84414-2",
"display" : "Haplotype name"
}
]
},
"subject" : {
"reference" : "urn:uuid:13f34265-335c-4853-bc38-0815315edafa",
"type" : "Patient",
"display" : "John Storm"
},
"effectiveDateTime" : "2016-12-15",
"performer" : [
{
"reference" : "urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950",
"display" : "aTypingLab, Inc"
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],
"valueCodeableConcept" : {
"coding" : [
{
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},
"method" : {
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{
"system" : "http://www.ncbi.nlm.nih.gov/gtr",
"code" : "GTR000000000.0"
}
],
"text" : "NGS based Class I HLA-A, -B, -C genotyping"
},
"specimen" : {
"reference" : "urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340",
"display" : "buccal swab from John Storm"
},
"derivedFrom" : [
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{
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],
"component" : [
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},
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},
{
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"resource" : {
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"id" : "CG-IG-HLA-FullBundle-01-25",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype"
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},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_CG-IG-HLA-FullBundle-01-25\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation CG-IG-HLA-FullBundle-01-25</b></p><a name=\"CG-IG-HLA-FullBundle-01-25\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-25\"> </a><a name=\"CG-IG-HLA-FullBundle-01-25-en-US\"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 84414-2}\">Haplotype name</span></p><p><b>subject</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-13f34265-335c-4853-bc38-0815315edafa\">John Storm</a></p><p><b>effective</b>: 2016-12-15</p><p><b>performer</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-9243cc20-27bd-4f87-ba90-0328ed474950\">aTypingLab, Inc</a></p><p><b>value</b>: <span title=\"Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HLA-C*01:02:01G}\">HLA-C*01:02:01G</span></p><p><b>method</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/gtr GTR000000000.0}\">NGS based Class I HLA-A, -B, -C genotyping</span></p><p><b>specimen</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-e44fbe33-6084-4ae2-a95e-8bc451c63340\">buccal swab from John Storm</a></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-2ae2ff34-279e-43c2-9018-b054fd3fc1ce\">HLA-C*03:04:01:01, exon 2</a></li><li><a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-19153ef1-68c6-47a2-9676-c4eefbd39af9\">HLA-C*03:04:01:01, exon 3</a></li></ul><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></td><td><span title=\"Codes:{http://www.genenames.org HGNC:4933}\">HLA-C</span></td></tr></table></div>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
},
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
"code" : "GE"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "84414-2",
"display" : "Haplotype name"
}
]
},
"subject" : {
"reference" : "urn:uuid:13f34265-335c-4853-bc38-0815315edafa",
"type" : "Patient",
"display" : "John Storm"
},
"effectiveDateTime" : "2016-12-15",
"performer" : [
{
"reference" : "urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950",
"display" : "aTypingLab, Inc"
}
],
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
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"display" : "HLA-C*01:02:01G"
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},
"method" : {
"coding" : [
{
"system" : "http://www.ncbi.nlm.nih.gov/gtr",
"code" : "GTR000000000.0"
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],
"text" : "NGS based Class I HLA-A, -B, -C genotyping"
},
"specimen" : {
"reference" : "urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340",
"display" : "buccal swab from John Storm"
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{
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"type" : "MolecularSequence",
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{
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}
],
"component" : [
{
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"code" : "HGNC:4933",
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]
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]
},
"request" : {
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{
"fullUrl" : "urn:uuid:0e0a780e-4486-4cd0-bfae-7243c579f208",
"resource" : {
"resourceType" : "Observation",
"id" : "CG-IG-HLA-FullBundle-01-26",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_CG-IG-HLA-FullBundle-01-26\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation CG-IG-HLA-FullBundle-01-26</b></p><a name=\"CG-IG-HLA-FullBundle-01-26\"> </a><a name=\"hcCG-IG-HLA-FullBundle-01-26\"> </a><a name=\"CG-IG-HLA-FullBundle-01-26-en-US\"> </a><p><b>basedOn</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-99309303-045e-4cf4-90d7-250d7a7476ea\">Class I HLA genotyping for John Storm</a></p><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 84413-4}\">Genotype display name</span></p><p><b>subject</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-13f34265-335c-4853-bc38-0815315edafa\">John Storm</a></p><p><b>effective</b>: 2016-12-15</p><p><b>performer</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-9243cc20-27bd-4f87-ba90-0328ed474950\">aTypingLab, Inc</a></p><p><b>value</b>: <span title=\"Codes:{http://glstring.org hla#3.23.0#HLA-C*01:02:01G+HLA-C*03:04:01G}\">hla#3.23.0#HLA-C*01:02:01G+HLA-C*03:04:01G</span></p><p><b>method</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/gtr GTR000000000.0}\">NGS based Class I HLA-A, -B, -C genotyping</span></p><p><b>specimen</b>: <a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-e44fbe33-6084-4ae2-a95e-8bc451c63340\">buccal swab from John Storm</a></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-8b2aa21c-1426-4717-8ab0-a84d83df7d47\">HLA-C*03:04:01G, exons 2 and 3</a></li><li><a href=\"Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-709c5315-9403-4867-9d82-0b953836665f\">HLA-C*01:02:01G, exons 2 and 3</a></li></ul><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></td><td><span title=\"Codes:{http://www.genenames.org HGNC:4933}\">HLA-C</span></td></tr></table></div>"
},
"basedOn" : [
{
"reference" : "urn:uuid:99309303-045e-4cf4-90d7-250d7a7476ea",
"type" : "ServiceRequest",
"display" : "Class I HLA genotyping for John Storm"
}
],
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
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{
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{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
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],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "84413-4",
"display" : "Genotype display name"
}
]
},
"subject" : {
"reference" : "urn:uuid:13f34265-335c-4853-bc38-0815315edafa",
"type" : "Patient",
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{
"reference" : "urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950",
"display" : "aTypingLab, Inc"
}
],
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://glstring.org",
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🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report"
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IG © 2022+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#3.0.0 based on FHIR 4.0.1. Generated 2024-11-19
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