Gene.png

A Gene contains following information:

1. Genotype of the patient
2. Phenotype of the patient
3. Sequences that relates to the gene





RESOURCE PROFILE:
<Gene>
    <patient><!--1..1 Resource(patient) Owner of this gene--></patient>
    <genotype><!--0..1 Resource(DNASequence) DNA sequence of this gene--></genotype>
    <phenotype><!--0..1 CodeableConcept Phenotype resulted from having this protein-->
        <hasTrait value="[boolean]"/><!--1..1 Effect of this gene on a trait(positive/negative)-->
        <trait><!--1..1 CodeableConcept Ontology for this trait--></trait>
    </phenotype>
    <relatedSequence><!--0..* Resource(Sequence) Sequence that this gene contains--></relatedSequence>
</Gene>

SHOW EXAMPLE IN: XML JSON

XML
<?xml version="1.0" encoding="UTF-8"?>
<Gene>
    <text>
        <status value="generated"/>
        <div xmlns="http://www.w3.org/1999/xhtml">
            <p>Gene from region chr11:150~23450 for patient 123</p>
        </div>
    </text>
    <contained>
        <type value="Patient"/>
        <url value="../patient/123"/>
        <display value="John Doe"/>
    </contained>
    <contained>
        <type value="DNASequence"/>
        <url value="../sequence/chr11:150~23450"/>
    </contained>
    <patient>
        <type value="Patient"/>
        <url value="../patient/123"/>
    </patient>
    <sequence>
        <type value="DNASequence"/>
        <url value="../sequence/chr11_150_23450"/>
    </sequence>
    <phenotype>
        <hasTrait value="true"/>
        <ontology>
            <coding>
                <system value="http://purl.bioportal.org/ontologies/SNOMEDCT" />
                    <code value="35434009"/>
                </coding>
            <text value="Sickle cell-hemoglobin C disease"/>
        </ontology>
    </phenotype>
</Gene>

JSON
    "Gene": {
        "text": {
            "status": {
                "value": "generated"
            },
        "div" : "<div xmlns='http://www.w3.org/1999/xhtml'><p>Gene from region chr11:150~23450 for patient 123</p></div>"
        },
        "contained": [
            {
                "url": {
                    "value": "../patient/123"
                },
                "type": {
                    "value": "Patient"
                },
                "display": {
                    "value": "John Doe"
                }
            },
            {
                "url": {
                    "value": "../sequence/chr11:150~23450"
                },
                "type": {
                    "value": "DNASequence"
                }
            }
        ],
        "patient": {
            "url": {
                "value": "../patient/123"
            },
            "type": {
                "value": "Patient"
            }
        },
        "sequence": {
            "url": {
                "value": "../sequence/chr11_150_23450"
            },
            "type": {
                "value": "DNASequence"
            }
        },
        "phenotype": {
            "ontology": {
                "text": {
                    "value": "Sickle cell-hemoglobin C disease"
                },
                "coding": {
                    "code": {
                        "value": "35434009"
                    },
                    "system": {
                        "value": "http://purl.bioportal.org/ontologies/SNOMEDCT"
                    }
                }
            },
            "hasTrait": {
                "value": "true"
            }
        }
    }