In
this
paper,
we
delve
into
the
intricate
realm
of
human
genomics,
presenting
a
novel
design
that
leverages
deep
learning
and
counterfactual
reasoning
for
causal
inference.
We
postulate
mutations
occurring
within
DNA
sequences
have
potential
to
instigate
diseases
by
interrupting
essential
biological
processes,
hypothesis
fundamentally
drives
research.
To
test
this,
undertaken
meticulous
extraction
key
attributes
from
range
databases
hosted
National
Center
Biotechnology
Information
(NCBI).
These
are
subsequently
processed
using
one-hot
encoding,
technique
effectively
transforms
categorical
variables
form
could
be
provided
machine
algorithms.
A
sophisticated
model
is
then
utilized
ascertain
accuracy
hypothesis.
The
output,
depicted
as
graph,
elucidates
relationships
interactions
between
in
question,
providing
graphical
representation
proposed
Our
research
suggests
strategic
modifications
sequence
or
alterations
set
induce
significant
changes
processes.
This,
turn,
can
lead
structure
function
proteins,
cornerstone
cellular
operations.
also
underline
importance
statements
formulating
hypotheses
driving
intelligent
behavior.
Despite
their
untestable
nature
inherent
subjectivity,
these
counterfactuals
serve
powerful
tools
comprehending
predicting
outcomes.
implications
extend
beyond
academic
interest.
It
provides
pathway
deeper
understanding
genomics
holds
promise
development
targeted
therapies
genetic
diseases.
fosters
possibility
personalized
medicine
therapeutic
strategies
alter
course
disease
at
level,
potentially
revolutionizing
healthcare.
Cancer Cell International,
Год журнала:
2023,
Номер
23(1)
Опубликована: Июнь 12, 2023
Abstract
Oral
squamous
cell
carcinoma
(OSCC)
is
the
predominant
histological
type
of
head
and
neck
(HNSCC).
By
comparing
differentially
expressed
genes
(DEGs)
in
OSCC-TCGA
patients
with
copy
number
variations
(CNVs)
that
we
identify
OSCC-OncoScan
dataset,
herein
identified
37
dysregulated
candidate
genes.
Among
these
potential
genes,
26
have
been
previously
reported
as
proteins
or
HNSCC.
11
novel
candidates,
overall
survival
analysis
revealed
melanotransferrin
(MFI2)
most
significant
prognostic
molecular
patients.
Another
independent
Taiwanese
cohort
confirmed
higher
MFI2
transcript
levels
were
significantly
associated
poor
prognosis.
Mechanistically,
found
knockdown
reduced
viability,
migration
invasion
via
modulating
EGF/FAK
signaling
OSCC
cells.
Collectively,
our
results
support
a
mechanistic
understanding
role
for
promoting
invasiveness
OSCC.
European Journal Of Oral Sciences,
Год журнала:
2024,
Номер
132(4)
Опубликована: Июнь 3, 2024
Abstract
Colony‐stimulating
factor
2
(CSF2)
plays
a
regulatory
role
in
numerous
cancers.
However,
there
is
needed
to
investigate
the
of
CSF2
oral
squamous
cell
carcinoma
(OSCC)
malignant
phenotype
and
specific
mechanisms
N‐6‐methyladenosine
(m6A)
modification.
Therefore,
we
investigated
mechanism
m6A‐modified
by
WT1‐associated
protein
(WTAP)
OSCC
via
qRT–PCR,
western
blot,
WTAP
overexpression
OSCC.
In
panel
OSCCs,
Kaplan–Meier
plot
analysis
indicated
that
high
expression
was
associated
with
poorer
prognosis.
Cell
functional
experiments
revealed
enrichment
promoted
proliferation
migration
cells
activating
JAK/STAT3
pathway,
whereas
reduced
resulted
decline
blocking
pathway.
This
study
also
confirmed
enhanced
m6A
level
facilitated
silencing
blocked
invasive
reversed
malignancy
induced
overexpression.
Overall,
this
demonstrated
mediates
modification
which
an
oncogenic
development
can
be
target
for
treatment
patients
Briefings in Bioinformatics,
Год журнала:
2024,
Номер
26(1)
Опубликована: Ноя. 22, 2024
Conventional
approaches
to
predict
protein
involvement
in
cancer
often
rely
on
defining
either
aberrant
mutations
at
the
single-gene
level
or
correlating/anti-correlating
transcript
levels
with
patient
survival.
These
are
typically
conducted
independently
and
focus
one
a
time,
overlooking
nucleotide
substitutions
outside
of
coding
regions
mutational
co-occurrences
genes
within
same
interaction
network.
Here,
we
present
CancerHubs,
method
that
integrates
unbiased
data,
clinical
outcome
predictions
interactomics
define
novel
cancer-related
hubs.
Through
this
approach,
identified
TGOLN2
as
putative
broad
tumour
suppressor
EFTUD2
multiple
myeloma
oncogene.
<p>In
this
paper,
we
delve
into
the
intricate
realm
of
human
genomics,
presenting
a
novel
design
that
leverages
deep
learning
and
counterfactual
reasoning
for
causal
inference.
We
postulate
mutations
occurring
within
DNA
sequences
have
potential
to
instigate
diseases
by
interrupting
essential
biological
processes,
hypothesis
fundamentally
drives
research.</p>
<p>To
test
this,
undertaken
meticulous
extraction
key
attributes
from
range
databases
hosted
National
Center
Biotechnology
Information
(NCBI).
These
are
subsequently
processed
using
one-hot
encoding,
technique
effectively
transforms
categorical
variables
form
could
be
provided
machine
algorithms.</p>
<p>A
sophisticated
model
is
then
utilized
ascertain
accuracy
hypothesis.
The
output,
depicted
as
graph,
elucidates
relationships
interactions
between
in
question,
providing
graphical
representation
proposed
hypothesis.</p>
<p>Our
research
suggests
strategic
modifications
sequence
or
alterations
set
induce
significant
changes
processes.
This,
turn,
can
lead
structure
function
proteins,
cornerstone
cellular
operations.</p>
<p>We
also
underline
importance
statements
formulating
hypotheses
driving
intelligent
behavior.
Despite
their
untestable
nature
inherent
subjectivity,
these
counterfactuals
serve
powerful
tools
comprehending
predicting
outcomes.</p>
<p>The
implications
extend
beyond
academic
interest.
It
provides
pathway
deeper
understanding
genomics
holds
promise
development
targeted
therapies
genetic
diseases.
fosters
possibility
personalized
medicine
therapeutic
strategies
alter
course
disease
at
level,
potentially
revolutionizing
healthcare.</p>
In
this
paper,
we
delve
into
the
intricate
realm
of
human
genomics,
presenting
a
novel
design
that
leverages
deep
learning
and
counterfactual
reasoning
for
causal
inference.
We
postulate
mutations
occurring
within
DNA
sequences
have
potential
to
instigate
diseases
by
interrupting
essential
biological
processes,
hypothesis
fundamentally
drives
research.
To
test
this,
undertaken
meticulous
extraction
key
attributes
from
range
databases
hosted
National
Center
Biotechnology
Information
(NCBI).
These
are
subsequently
processed
using
one-hot
encoding,
technique
effectively
transforms
categorical
variables
form
could
be
provided
machine
algorithms.
A
sophisticated
model
is
then
utilized
ascertain
accuracy
hypothesis.
The
output,
depicted
as
graph,
elucidates
relationships
interactions
between
in
question,
providing
graphical
representation
proposed
Our
research
suggests
strategic
modifications
sequence
or
alterations
set
induce
significant
changes
processes.
This,
turn,
can
lead
structure
function
proteins,
cornerstone
cellular
operations.
also
underline
importance
statements
formulating
hypotheses
driving
intelligent
behavior.
Despite
their
untestable
nature
inherent
subjectivity,
these
counterfactuals
serve
powerful
tools
comprehending
predicting
outcomes.
implications
extend
beyond
academic
interest.
It
provides
pathway
deeper
understanding
genomics
holds
promise
development
targeted
therapies
genetic
diseases.
fosters
possibility
personalized
medicine
therapeutic
strategies
alter
course
disease
at
level,
potentially
revolutionizing
healthcare.