MolecularSequence example for patient with breast cancer gene variant
{
"resourceType": "MolecularSequence",
"id": "breastcancer",
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: MolecularSequence</b><a name=\"breastcancer\"> </a></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 MolecularSequence "breastcancer" </p></div><p><b>type</b>: rna</p><p><b>subject</b>: <a href=\"broken-link.html\">Patient/brcapat</a></p><blockquote><p><b>relative</b></p><p><b>coordinateSystem</b>: 0-based interval counting <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA30100-4)</span></p><h3>StartingSequences</h3><table class=\"grid\"><tr><td>-</td><td><b>Sequence[x]</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td>*</td><td>Homo sapiens BRCA2, DNA repair associated (BRCA2), mRNA <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (#NM_000059.3)</span></td><td>101488058</td><td>101499444</td></tr></table><h3>Edits</h3><table class=\"grid\"><tr><td>-</td><td><b>Start</b></td><td><b>End</b></td><td><b>ReplacementSequence</b></td><td><b>ReplacedSequence</b></td></tr><tr><td>*</td><td>32316186</td><td>32316187</td><td>A</td><td>C</td></tr></table></blockquote></div>"
},
"type": "rna",
"subject": {
"reference": "Patient/brcapat"
},
"relative": [
{
"coordinateSystem": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA30100-4",
"display": "0-based interval counting"
}
]
},
"startingSequence": {
"sequenceCodeableConcept": {
"coding": [
{
"system": "http://www.ncbi.nlm.nih.gov/nuccore/",
"code": "NM_000059.3",
"display": "Homo sapiens BRCA2, DNA repair associated (BRCA2), mRNA"
}
]
},
"windowStart": 101488058,
"windowEnd": 101499444
},
"edit": [
{
"start": 32316186,
"end": 32316187,
"replacementSequence": "A",
"replacedSequence": "C"
}
]
}
]
}
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.