Journal of Molecular Diagnostics,
Journal Year:
2024,
Volume and Issue:
26(3), P. 213 - 226
Published: Jan. 9, 2024
Optical
genome
mapping
is
a
high-resolution
technology
that
can
detect
all
types
of
structural
variations
in
the
genome.
This
second
phase
multisite
study
compares
performance
optical
and
current
standard-of-care
methods
for
diagnostic
testing
individuals
with
constitutional
disorders,
including
neurodevelopmental
impairments
congenital
anomalies.
Among
627
analyses
2,
405
were
retrospective
samples
supplied
by
five
centers
United
States
94
prospective
collected
over
18
months
two
(June
2021
to
October
2022).
Additional
represented
family
cohort
determine
inheritance
(n
=
119)
controls
9).
Full
concordance
results
between
one
or
more
tests
was
98.6%
(618/627),
partial
an
additional
1.1%
(7/627).
Scientific Reports,
Journal Year:
2024,
Volume and Issue:
14(1)
Published: May 16, 2024
Abstract
While
short-read
sequencing
currently
dominates
genetic
research
and
diagnostics,
it
frequently
falls
short
of
capturing
certain
structural
variants
(SVs),
which
are
often
implicated
in
the
etiology
neurodevelopmental
disorders
(NDDs).
Optical
genome
mapping
(OGM)
is
an
innovative
technique
capable
SVs
that
undetectable
or
challenging-to-detect
via
methods.
This
study
aimed
to
investigate
NDDs
using
OGM,
specifically
focusing
on
cases
remained
unsolved
after
standard
exome
sequencing.
OGM
was
performed
47
families
ultra-high
molecular
weight
DNA.
Single-molecule
maps
were
assembled
de
novo,
followed
by
SV
copy
number
variant
calling.
We
identified
7
interest,
5
(10.6%)
classified
as
likely
pathogenic
pathogenic,
located
BCL11A,
OPHN1
,
PHF8,
SON
NFIA.
also
inversion
disrupting
NAALADL2
a
gene
previously
found
harbor
complex
rearrangements
two
NDD
cases.
Variants
known
genes
candidate
interest
missed
mainly
consisted
larger
insertions
(>
1kbp),
inversions,
deletions/duplications
low
exons
(1–4
exons).
In
conclusion,
addition
improving
diagnosis
NDDs,
this
may
reveal
novel
techniques.
Genes,
Journal Year:
2024,
Volume and Issue:
15(3), P. 342 - 342
Published: March 7, 2024
Chromosome
analysis
(CA)
and
chromosomal
microarray
(CMA)
have
been
successfully
used
to
diagnose
genetic
disorders.
However,
many
conditions
remain
undiagnosed
due
limitations
in
resolution
detection
of
only
unbalanced
events
(CMA).
Optical
genome
mapping
(OGM)
has
the
potential
address
these
by
capturing
both
structural
variants
(SVs)
resulting
copy
number
changes
balanced
rearrangements
with
high
resolution.
In
this
study,
we
investigated
OGM’s
concordance
using
87
SVs
previously
identified
CA,
CMA,
or
Southern
blot.
Overall,
OGM
was
98%
concordant
three
discordant
cases:
(1)
uncalled
translocation
one
breakpoint
a
centromere;
(2)
duplication
breakpoints
pseudoautosomal
region
1;
(3)
mosaic
triplication
originating
from
marker
chromosome.
provided
diagnosis
for
unsolved
disruption
SON
gene
reciprocal
translocation;
NBEA
an
inverted
insertion;
TSC2
deletion.
We
show
that
is
valid
method
types
single
assay
highly
legacy
cytogenomic
methods;
however,
it
limited
SV
capabilities
centromeric
regions.
Diagnostics,
Journal Year:
2023,
Volume and Issue:
13(11), P. 1841 - 1841
Published: May 24, 2023
Optical
genome
mapping
(OGM)
is
a
new
genome-wide
technology
that
can
reveal
both
structural
genomic
variations
(SVs)
and
copy
number
(CNVs)
in
single
assay.
OGM
was
initially
employed
to
perform
assembly
research,
but
it
now
more
widely
used
study
chromosome
aberrations
genetic
disorders
human
cancer.
One
of
the
most
useful
applications
hematological
malignancies,
where
chromosomal
rearrangements
are
frequent
conventional
cytogenetic
analysis
alone
insufficient,
necessitating
further
confirmation
using
ancillary
techniques
such
as
fluorescence
situ
hybridization,
microarrays,
or
multiple
ligation-dependent
probe
amplification.
The
first
studies
tested
efficiency
sensitivity
for
SV
CNV
detection,
comparing
heterogeneous
groups
lymphoid
myeloid
sample
data
with
those
obtained
standard
diagnostic
tests.
Most
work
based
on
this
innovative
focused
myelodysplastic
syndromes
(MDSs),
acute
leukemia
(AML),
lymphoblastic
(ALL),
whereas
little
attention
paid
chronic
lymphocytic
(CLL)
myeloma
(MM),
none
lymphomas.
showed
be
considered
highly
reliable
method,
concordant
able
detect
novel
clinically
significant
SVs,
thus
allowing
better
patient
classification,
prognostic
stratification,
therapeutic
choices
malignancies.
Journal of Molecular Diagnostics,
Journal Year:
2024,
Volume and Issue:
26(3), P. 213 - 226
Published: Jan. 9, 2024
Optical
genome
mapping
is
a
high-resolution
technology
that
can
detect
all
types
of
structural
variations
in
the
genome.
This
second
phase
multisite
study
compares
performance
optical
and
current
standard-of-care
methods
for
diagnostic
testing
individuals
with
constitutional
disorders,
including
neurodevelopmental
impairments
congenital
anomalies.
Among
627
analyses
2,
405
were
retrospective
samples
supplied
by
five
centers
United
States
94
prospective
collected
over
18
months
two
(June
2021
to
October
2022).
Additional
represented
family
cohort
determine
inheritance
(n
=
119)
controls
9).
Full
concordance
results
between
one
or
more
tests
was
98.6%
(618/627),
partial
an
additional
1.1%
(7/627).
