This
page
is
part
of
the
FHIR
Specification
(v3.0.2:
(v4.0.1:
R4
-
Mixed
Normative
and
STU
3).
)
in
it's
permanent
home
(it
will
always
be
available
at
this
URL).
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
R4
R3
| Clinical Genomics Work Group | Maturity Level : N/A |
|
Compartments
:
|
Raw XML ( canonical form + also see XML Format Specification )
Example
of
another
single
varaint
on
a
reference
Sequence
MolecularSequence
related
to
a
haplotype
observation
in
PGx
example,
which
will
form
with
the
other
haplotype
data
to
be
a
diplotype
observation.
(id
=
"example-pgx-2")
<?xml version="1.0" encoding="UTF-8"?> <MolecularSequence xmlns="http://hl7.org/fhir"> <id value="example-pgx-2"/> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p> <b> Generated Narrative with Details</b> </p> <p> <b> id</b> : example-pgx-2</p> <p> <b> type</b> : dna</p> <p> <b> coordinateSystem</b> : 0</p> <p> <b> patient</b> : <a> Patient/example</a> </p> <h3> ReferenceSeqs</h3> <table> <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> (Details : {http://www.ncbi.nlm.nih.gov/nuccore code 'NG_007726.3' = 'NG_007726.3)</span> </td> <td> watson</td> <td> 55227970</td> <td> 55227980</td> </tr> </table> <h3> Variants</h3> <table> <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> Target Haplotype Observation</a> </td> </tr> </table> </div> </text> <type value="dna"/> <coordinateSystem value="0"/> <patient> <reference value="Patient/example"/> </patient> <referenceSeq> <orientation value="sense"/> <referenceSeqId> <coding> <system value="http://www.ncbi.nlm.nih.gov/nuccore"/> <code value="NG_007726.3"/></coding> </referenceSeqId> <strand value="watson"/> <windowStart value="55227970"/> <windowEnd value="55227980"/> </referenceSeq> <variant> <start value="55227978"/> <end value="55227979"/> <observedAllele value="G"/> <referenceAllele value="T"/> <variantPointer> <reference value="Observation/example-haplotype2"/> <display value="Target Haplotype Observation"/> </variantPointer></variant> </SequenceMolecularSequence >
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.