Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Revisiting Mendelian disorders through exome sequencing.
[kabuki syndrome]
Over
the
past
several
years
,
more
focus
has
been
placed
on
dissecting
the
genetic
basis
of
complex
diseases
and
traits
through
genome-
wide
association
studies
.
In
contrast
,
Mendelian
disorders
have
received
little
attention
mainly
due
to
the
lack
of
newer
and
more
powerful
methods
to
study
these
disorders
.
Linkage
studies
have
previously
been
the
main
tool
to
elucidate
the
genetics
of
Mendelian
disorders
;
however
,
extremely
rare
disorders
or
sporadic
cases
caused
by
de
novo
variants
are
not
amendable
to
this
study
design
.
Exome
sequencing
has
now
become
technically
feasible
and
more
cost-effective
due
to
the
recent
advances
in
high
-throughput
sequence
capture
methods
and
next
-generation
sequencing
technologies
which
have
offered
new
opportunities
for
Mendelian
disorder
research
.
Exome
sequencing
has
been
swiftly
applied
to
the
discovery
of
new
causal
variants
and
candidate
genes
for
a
number
of
Mendelian
disorders
such
as
Kabuki
syndrome
,
Miller
syndrome
and
Fowler
syndrome
.
In
addition
,
de
novo
variants
were
also
identified
for
sporadic
cases
,
which
would
have
not
been
possible
without
exome
sequencing
.
Although
exome
sequencing
has
been
proven
to
be
a
promising
approach
to
study
Mendelian
disorders
,
several
shortcomings
of
this
method
must
be
noted
,
such
as
the
inability
to
capture
regulatory
or
evolutionary
conserved
sequences
in
non-coding
regions
and
the
incomplete
capturing
of
all
exons
.
Diseases
Validation
Diseases presenting
"sporadic cases caused by de novo variants are not amendable to this study design"
symptom
kabuki syndrome
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