This page is part of the FHIR Specification (v4.3.0: R4B - STU). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions . Page versions: R5 R4B R4 R3
Clinical Genomics Work Group | Maturity Level: N/A | Standards Status: Informative | Compartments: Patient |
Raw JSON (canonical form + also see JSON Format Specification)
Example of a single varaint on a reference MolecularSequence related to a haplotype observation in PGx example
{ "resourceType": "MolecularSequence", "id": "example-pgx-1", "text": { "status": "generated", "div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource "example-pgx-1" </p></div><p><b>type</b>: dna</p><p><b>coordinateSystem</b>: 0</p><p><b>patient</b>: <a href=\"patient-example.html\">Patient/example</a> "Peter CHALMERS"</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td>-</td><td><b>Orientation</b></td><td><b>ReferenceSeqId</b></td><td><b>Strand</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td>*</td><td>sense</td><td>NG_007726.3 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (nuccore#NG_007726.3)</span></td><td>watson</td><td>55227970</td><td>55227980</td></tr></table><h3>Variants</h3><table class=\"grid\"><tr><td>-</td><td><b>Start</b></td><td><b>End</b></td><td><b>ObservedAllele</b></td><td><b>ReferenceAllele</b></td><td><b>VariantPointer</b></td></tr><tr><td>*</td><td>55227976</td><td>55227977</td><td>G</td><td>T</td><td><a href=\"observation-example-haplotype1.html\">Observation/example-haplotype1: Target Haplotype Observation</a></td></tr></table></div>" }, "type": "dna", "coordinateSystem": 0, "patient": { "reference": "Patient/example" }, "referenceSeq": { "orientation": "sense", "referenceSeqId": { "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", "code": "NG_007726.3" } ] }, "strand": "watson", "windowStart": 55227970, "windowEnd": 55227980 }, "variant": [ { "start": 55227976, "end": 55227977, "observedAllele": "G", "referenceAllele": "T", "variantPointer": { "reference": "Observation/example-haplotype1", "display": "Target Haplotype Observation" } } ] }
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.