Rare Diseases Symptoms Automatic Extraction
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Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype.
[aniridia]
Whilst
the
majority
of
inherited
diseases
have
been
found
to
be
caused
by
single
base
substitutions
,
small
insertions
or
deletions
(
<
1
Kb
)
,
a
significant
proportion
of
genetic
variability
is
due
to
copy
number
variation
(
CNV
)
.
The
possible
role
of
CNV
in
monogenic
and
complex
diseases
has
recently
attracted
considerable
interest
.
However
,
until
the
development
of
whole
genome
,
oligonucleotide
micro-arrays
,
designed
specifically
to
detect
the
presence
of
copy
number
variation
,
it
was
not
easy
to
screen
an
individual
for
the
presence
of
unknown
deletions
or
duplications
with
sizes
below
the
level
of
sensitivity
of
optical
microscopy
(
3
-
5
Mb
)
.
Now
that
currently
available
oligonucleotide
micro-arrays
have
in
excess
of
a
million
probes
,
the
problem
of
copy
number
analysis
has
moved
from
one
of
data
production
to
that
of
data
analysis
.
We
have
developed
CNViewer
,
to
identify
copy
number
variation
that
co
-segregates
with
a
disease
phenotype
in
small
nuclear
families
,
from
genome-
wide
oligonucleotide
micro-array
data
.
This
freely
available
program
should
constitute
a
useful
addition
to
the
diagnostic
armamentarium
of
clinical
geneticists
.
Diseases
Validation
Diseases presenting
"small insertions or deletions"
symptom
aniridia
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