Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Anchored multiplex PCR for targeted next-generation sequencing.
[cholangiocarcinoma]
We
describe
a
rapid
target
enrichment
method
for
next
-generation
sequencing
,
termed
anchored
multiplex
PCR
(
AMP
)
,
that
is
compatible
with
low
nucleic
acid
input
from
formalin-fixed
paraffin-embedded
(
FFPE
)
specimens
.
AMP
is
effective
in
detecting
gene
rearrangements
(
without
prior
knowledge
of
the
fusion
partners
)
,
single
nucleotide
variants
,
insertions
,
deletions
and
copy
number
changes
.
Validation
of
a
gene
rearrangement
panel
using
319
FFPE
samples
showed
100
%
sensitivity
(
95
%
confidence
limit
:
96
.
5
-
100
%
)
and
100
%
specificity
(
95
%
confidence
limit
:
99
.
3
-
100
%
)
compared
with
reference
assays
.
On
the
basis
of
our
experience
with
performing
AMP
on
986
clinical
FFPE
samples
,
we
show
its
potential
as
both
a
robust
clinical
assay
and
a
powerful
discovery
tool
,
which
we
used
to
identify
new
therapeutically
important
gene
fusions
:
ARHGEF
2
-
NTRK
1
and
CHTOP
-
NTRK
1
in
glioblastoma
,
MSN
-
ROS
1
,
TRIM
4
-
BRAF
,
VAMP
2
-
NRG
1
,
TPM
3
-
NTRK
1
and
RUFY
2
-
RET
in
lung
cancer
,
FGFR
2
-
CREB
5
in
cholangiocarcinoma
and
PPL
-
NTRK
1
in
thyroid
carcinoma
.
AMP
is
a
scalable
and
efficient
next
-generation
sequencing
target
enrichment
method
for
research
and
clinical
applications
.
Diseases
Validation
Diseases presenting
"lung cancer"
symptom
adrenal incidentaloma
cholangiocarcinoma
cushing syndrome
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
kindler syndrome
liposarcoma
primary effusion lymphoma
severe combined immunodeficiency
systemic capillary leak syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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