Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.
[canavan disease]
Many
recessive
genetic
disorders
are
found
at
a
higher
incidence
in
people
of
Ashkenazi
Jewish
(
AJ
)
descent
than
in
the
general
population
.
The
American
College
of
Medical
Genetics
and
the
American
College
of
Obstetricians
and
Gynecologists
have
recommended
that
individuals
of
AJ
descent
undergo
carrier
screening
for
Tay
Sachs
disease
,
Canavan
disease
,
familial
dysautonomia
,
mucolipidosis
IV
,
Niemann-
Pick
disease
type
A
,
Fanconi
anemia
type
C
,
Bloom
syndrome
,
and
Gaucher
disease
.
Although
these
recommendations
have
led
to
increased
test
volumes
and
number
of
laboratories
offering
AJ
screening
,
well-characterized
genomic
reference
materials
are
not
publicly
available
.
The
Centers
for
Disease
Control
and
Prevention-based
Genetic
Testing
Reference
Materials
Coordination
Program
,
in
collaboration
with
members
of
the
genetic
testing
community
and
Coriell
Cell
Repositories
,
have
developed
a
panel
of
characterized
genomic
reference
materials
for
AJ
genetic
testing
.
DNA
from
31
cell
lines
,
representing
many
of
the
common
alleles
for
Tay
Sachs
disease
,
Canavan
disease
,
familial
dysautonomia
,
mucolipidosis
IV
,
Niemann-
Pick
disease
type
A
,
Fanconi
anemia
type
C
,
Bloom
syndrome
,
Gaucher
disease
,
and
glycogen
storage
disease
,
was
prepared
by
the
Repository
and
tested
in
six
clinical
laboratories
using
three
different
PCR-based
assay
platforms
.
A
total
of
33
disease
alleles
was
assayed
and
25
different
alleles
were
identified
.
These
characterized
materials
are
publicly
available
from
Coriell
and
may
be
used
for
quality
control
,
proficiency
testing
,
test
development
,
and
research
.
Diseases
Validation
Diseases presenting
"well-characterized genomic reference materials"
symptom
canavan disease
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