This
page
is
part
of
the
FHIR
Specification
(v5.0.0-draft-final:
Final
QA
Preview
for
R5
-
see
ballot
notes
).
The
current
version
which
supercedes
this
version
is
5.0.0
.
For
a
full
list
of
available
versions,
see
the
Directory
of
published
versions
|
|
Maturity Level : N/A | Standards Status : Informative |
Compartments
:
|
This
is
the
narrative
for
the
resource.
See
also
the
XML
,
JSON
or
Turtle
format.
This
example
conforms
to
the
profile
GenomicStudy
.
Generated
Narrative:
GenomicStudy
example-trio2
identifier
:
http://www.somesystemabc.net/identifiers/genomicstudies
/urn:uuid:1111-1111-1111-1113 (use: temp, )
status
:
available
type
:
Trio-analysis
subject
:
Anonymous
Patient
female,
DoB:
1966-04-04
(
Computer-Stored
Abulatory
Records
(COSTAR): 999999999 (use: usual, ))
encounter
:
Encounter/denovoEncounter
startDate
:
2022-05-01
basedOn
:
ServiceRequest/genomicSRProband
ServiceRequest/genomicSRMother
ServiceRequest/genomicSRFather
referrer
:
Practitioner/practitioner01
interpreter
:
Practitioner/practitioner02
Raw
ShEx
note
:
This
de
novo
mutation
is
urgent
and
important
ShEx
statement
for
establishing
the
treatment
plan.
description
:
De
novo
mutation
study
of
the
patient.
The
Prenatal
Trio
Whole
Exome
Sequencing
(Prenatal
Trio
WES)
test
is
ordered
by
a
physician
and
must
be
accompanied
with
a
consent
form
and
detailed
clinical
information.
In
general,
the
test
is
used
when
prenatal
imaging
detects
an
anomaly
that
strongly
suggests
that
there
is
an
underlying
genetic
etiology.
Prenatal
Trio
WES
is
often
considered
only
after
fetal
chromosome
microarray
analysis
has
been
non-diagnostic.
analysis
identifier
:
http://www.somesystemabc.net/identifiers/genomicAnalyses
/urn:uuid:1111-1111-1111-1112 (use: temp, )
instantiatesUri
:
https://pubmed.ncbi.nlm.nih.gov/33927380/
title
:
Maternal
Sequence
Variation
Detection
Using
Next
Generation
Sequencing
focus
:
Patient/mother
specimen
:
Specimen/specimenMother
date
:
2022-07-01T01:01:10-06:00
note
:
This
is
a
next
generation
sequencing
analysis
of
a
mother
of
a
proband.
Performers
-
Actor
Role
*
Practitioner/practitioner02
Performer
Devices
-
Device
*
Device/NGS-device
analysis
identifier
:
http://www.somesystemabc.net/identifiers/genomicAnalyses
/urn:uuid:1111-1111-1111-1113 (use: temp, )
instantiatesUri
:
https://pubmed.ncbi.nlm.nih.gov/33927380/
title
:
Paternal
Sequence
Variation
Detection
Using
Next
Generation
Sequencing
focus
:
Patient/father
specimen
:
Specimen/specimenFather
date
:
2022-07-01T01:01:10-06:00
note
:
This
is
a
next
generation
sequencing
analysis
of
a
father
of
a
proband.
Performers
-
Actor
Role
*
Practitioner/practitioner02
Performer
Devices
-
Device
*
Device/NGS-device
analysis
identifier
:
http://www.somesystemabc.net/identifiers/genomicAnalyses
/urn:uuid:1111-1111-1111-1114 (use: temp, )
instantiatesUri
:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885382/
title
:
De
Novo
Mutation
Detection
and
Interpretation
focus
:
Patient/denovoChild
RelatedPerson/relatedPersonDenovoFather
RelatedPerson/relatedPersonDenovoMother
date
:
2022-07-01T03:01:10-06:00
note
:
This
is
a
next
generation
sequencing
analysis
of
the
comparison
analysis
of
proband
and
parents
sequences.
input
file
:
DocumentReference/genomicFileProband
type
:
BAM
input
file
:
DocumentReference/genomicFileMother
type
:
BAM
input
file
:
DocumentReference/genomicFileFather
type
:
BAM
encounterhistory
Usage
note:
every
effort
has
been
made
to
ensure
that
the
examples
ShEx
files
are
correct
and
useful,
but
they
are
not
a
normative
part
of
the
specification.