Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes.
[cohen syndrome]
The
causes
of
intellectual
disability
,
which
affects
1
%
-
3
%
of
the
general
population
,
are
highly
heterogeneous
and
the
genetic
defect
remains
unknown
in
around
40
%
of
patients
.
The
application
of
next
-generation
sequencing
is
changing
the
nature
of
biomedical
diagnosis
.
This
technology
has
quickly
become
the
method
of
choice
for
searching
for
pathogenic
mutations
in
rare
uncharacterised
genetic
diseases
.
Whole-exome
sequencing
was
applied
to
a
series
of
families
affected
with
intellectual
disability
in
order
to
identify
variants
underlying
disease
phenotypes
.
We
present
data
of
three
families
in
which
we
identified
the
disease-causing
mutations
and
which
benefited
from
receiving
a
clinical
diagnosis
:
Cornelia
de
Lange
,
Cohen
syndrome
and
Dent
-
2
disease
.
The
genetic
heterogeneity
and
the
variability
in
clinical
presentation
of
these
disorders
could
explain
why
these
patients
are
difficult
to
diagnose
.
The
accessibility
to
next
-generation
sequencing
allows
clinicians
to
save
much
time
and
cost
in
identifying
the
aetiology
of
rare
diseases
.
The
presented
cases
are
excellent
examples
that
demonstrate
the
efficacy
of
next
-generation
sequencing
in
rare
disease
diagnosis
.
Diseases
Validation
Diseases presenting
"intellectual disability"
symptom
22q11.2 deletion syndrome
alexander disease
alpha-thalassemia
aniridia
child syndrome
cohen syndrome
cowden syndrome
hirschsprung disease
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
monosomy 21
oculocutaneous albinism
oligodontia
phenylketonuria
proteus syndrome
triple a syndrome
wolf-hirschhorn syndrome
This symptom has already been validated