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A random Abstract
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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
"low nucleic acid input"
symptom
cholangiocarcinoma
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