Example of another single varaint on a reference MolecularSequence related to a haplotype observation in PGx example, which will form with the other haplotype data to be a diplotype observation.
{
"resourceType": "MolecularSequence",
"id": "example-pgx-2",
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: MolecularSequence</b><a name=\"example-pgx-2\"> </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 "example-pgx-2" </p></div><p><b>type</b>: dna</p><p><b>subject</b>: <a href=\"patient-example.html\">Patient/example</a> "Peter CHALMERS"</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><td><b>Orientation</b></td><td><b>Strand</b></td></tr><tr><td>*</td><td>NG_007726.3 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (nuccore#NG_007726.3)</span></td><td>55227970</td><td>55227980</td><td>sense</td><td>watson</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>55227978</td><td>55227979</td><td>G</td><td>T</td></tr></table></blockquote></div>"
},
"type": "dna",
"subject": {
"reference": "Patient/example"
},
"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": "NG_007726.3"
}
]
},
"windowStart": 55227970,
"windowEnd": 55227980,
"orientation": "sense",
"strand": "watson"
},
"edit": [
{
"start": 55227978,
"end": 55227979,
"replacementSequence": "G",
"replacedSequence": "T"
}
]
}
]
}
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.