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</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-2" </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>55227978</td><td>55227979</td><td>G</td><td>T</td><td><a href=\"observation-example-haplotype2.html\">Observation/example-haplotype2: Target Haplotype Observation</a></td></tr></table></div>"
"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",
"coordinateSystem": 0,
"patient": {
"reference": "Patient/example"
"type" : "dna",
"subject" : {
"reference" : "Patient/example"
},
"referenceSeq": {
"orientation": "sense",
"referenceSeqId": {
"coding": [
{
"system": "http://www.ncbi.nlm.nih.gov/nuccore",
"code": "NG_007726.3"
}
]
"relative" : [{
"coordinateSystem" : {
"coding" : [{
"system" : "http://loinc.org",
"code" : "LA30100-4",
"display" : "0-based interval counting"
}]
},
"strand": "watson",
"windowStart": 55227970,
"windowEnd": 55227980
},
"variant": [
{
"start": 55227978,
"end": 55227979,
"observedAllele": "G",
"referenceAllele": "T",
"variantPointer": {
"reference": "Observation/example-haplotype2",
"display": "Target Haplotype Observation"
}
}
]
"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.