Frontiers in Medicine,
Journal Year:
2025,
Volume and Issue:
11
Published: Jan. 7, 2025
Polygenic
risk
score
(PRS)
prediction
is
widely
used
to
assess
the
of
diagnosis
and
progression
many
diseases.
Routinely,
weights
individual
SNPs
are
estimated
by
linear
regression
model
that
assumes
independent
contribution
each
SNP
phenotype.
However,
for
complex
multifactorial
diseases
such
as
Alzheimer's
disease,
diabetes,
cardiovascular
cancer,
others,
association
between
disease
could
be
non-linear
due
epistatic
interactions.
The
aim
presented
study
explore
power
machine
learning
algorithms
deep
models
predict
with
epistasis.
Simulated
data
2-
3-loci
interactions
tested
three
different
epistasis:
additive,
multiplicative
threshold,
were
generated
using
GAMETES.
Penetrance
tables
PyTOXO
package.
For
methods
we
multilayer
perceptron
(MLP),
convolutional
neural
network
(CNN)
recurrent
(RNN),
Lasso
regression,
random
forest
gradient
boosting
models.
Performance
assessed
accuracy,
AUC-ROC,
AUC-PR,
recall,
precision,
F1
score.
First,
ensemble
tree
networks
against
LASSO
on
simulated
types
strength
results
showed
increase
epistasis
effect,
significantly
outperform
linear.
Then
higher
performance
over
was
confirmed
real
genetic
phenotypes
obesity,
type
1
psoriasis.
From
models,
appeared
best
in
obesity
psoriasis
while
approaches
diabetes.
Overall,
our
underscores
efficacy
more
accurately
accounting
effects
simulations
specific
configurations
context
certain
Healthcare Analytics,
Journal Year:
2024,
Volume and Issue:
5, P. 100301 - 100301
Published: Jan. 21, 2024
This
study
introduces
the
first-ever
self-explanatory
interface
for
diagnosing
diabetes
patients
using
machine
learning.
We
propose
four
classification
models
(Decision
Tree
(DT),
K-nearest
Neighbor
(KNN),
Support
Vector
Classification
(SVC),
and
Extreme
Gradient
Boosting
(XGB))
based
on
publicly
available
dataset.
To
elucidate
inner
workings
of
these
models,
we
employed
learning
interpretation
method
known
as
Shapley
Additive
Explanations
(SHAP).
All
exhibited
commendable
accuracy
in
with
diabetes,
XGB
model
showing
a
slight
edge
over
others.
Utilising
SHAP,
delved
into
model,
providing
in-depth
insights
reasoning
behind
its
predictions
at
granular
level.
Subsequently,
integrated
SHAP's
local
explanations
an
to
predict
patients.
serves
critical
role
it
diagnoses
offers
transparent
decisions
made,
users
heightened
awareness
their
current
health
conditions.
Given
high-stakes
nature
medical
field,
this
developed
can
be
further
enhanced
by
including
more
extensive
clinical
data,
ultimately
aiding
professionals
decision-making
processes.
Scientific Reports,
Journal Year:
2024,
Volume and Issue:
14(1)
Published: Jan. 24, 2024
Abstract
The
study
aimed
to
identify
the
most
predictive
factors
for
development
of
type
2
diabetes.
Using
an
XGboost
classification
model,
we
projected
diabetes
incidence
over
a
10-year
horizon.
We
deliberately
minimized
selection
baseline
fully
exploit
rich
dataset
from
UK
Biobank.
value
features
was
assessed
using
shap
values,
with
model
performance
evaluated
via
Receiver
Operating
Characteristic
Area
Under
Curve,
sensitivity,
and
specificity.
Data
Biobank,
encompassing
vast
population
comprehensive
demographic
health
data,
employed.
enrolled
450,000
participants
aged
40–69,
excluding
those
pre-existing
Among
448,277
participants,
12,148
developed
within
decade.
HbA1c
emerged
as
foremost
predictor,
followed
by
BMI,
waist
circumference,
blood
glucose,
family
history
diabetes,
gamma-glutamyl
transferase,
waist-hip
ratio,
HDL
cholesterol,
age,
urate.
Our
achieved
Curve
0.9
prediction,
reduced
10-feature
achieving
0.88.
Easily
measurable
biological
surpassed
traditional
risk
like
diet,
physical
activity,
socioeconomic
status
in
predicting
Furthermore,
high
prediction
accuracy
could
be
maintained
just
top
10
factors,
additional
ones
offering
marginal
improvements.
These
findings
underscore
significance
markers
prediction.
Abstract
Diabetes
as
a
metabolic
illness
can
be
characterized
by
increased
amounts
of
blood
glucose.
This
abnormal
increase
lead
to
critical
detriment
the
other
organs
such
kidneys,
eyes,
heart,
nerves,
and
vessels.
Therefore,
its
prediction,
prognosis,
management
are
essential
prevent
harmful
effects
also
recommend
more
useful
treatments.
For
these
goals,
machine
learning
algorithms
have
found
considerable
attention
been
developed
successfully.
review
surveys
recently
proposed
(ML)
deep
(DL)
models
for
objectives
mentioned
earlier.
The
reported
results
disclose
that
ML
DL
promising
approaches
controlling
glucose
diabetes.
However,
they
should
improved
employed
in
large
datasets
affirm
their
applicability.
EClinicalMedicine,
Journal Year:
2023,
Volume and Issue:
58, P. 101934 - 101934
Published: April 1, 2023
Insulin
resistance
(IR)
is
associated
with
diabetes
mellitus,
cardiovascular
disease
(CV),
and
mortality.
Few
studies
have
used
machine
learning
to
predict
IR
in
the
non-diabetic
population.In
this
prospective
cohort
study,
we
trained
a
predictive
model
for
populations
using
US
National
Health
Nutrition
Examination
Survey
(NHANES,
from
JAN
01,
1999
DEC
31,
2012)
database
Taiwan
MAJOR
(from
2008
2017)
database.
We
analysed
participants
NHANES
were
excluded
if
they
aged
<18
years
old,
had
incomplete
laboratory
data,
or
DM.
To
investigate
clinical
implications
(CV
all-cause
mortality)
of
model,
tested
it
biobank
(TWB)
10,
NOV
30,
2018.
then
SHapley
Additive
exPlanation
(SHAP)
values
explain
differences
across
models.Of
all
(combined
MJ
databases),
randomly
selected
14,705
training
group,
4018
validation
group.
In
their
areas
under
curve
(AUC)
>0.8
(highest
being
XGboost,
0.87).
test
AUC
also
>0.80
0.88).
Among
9
features
(age,
gender,
race,
body
mass
index,
fasting
plasma
glucose
(FPG),
glycohemoglobin,
triglyceride,
total
cholesterol
high-density
cholesterol),
BMI
highest
value
feature
importance
on
(0.43
XGboost
0.47
RF
algorithms).
All
TWB
separated
into
group
non-IR
according
algorithm.
The
Kaplan-Meier
survival
showed
significant
difference
between
groups
(p
<
0.0001
CV
mortality,
p
=
0.0006
mortality).
Therefore,
has
clear
predicting
IR,
aside
mortality.To
patients
high
accuracy,
only
easily
obtained
are
needed
prediction
accuracy
our
model.
Similarly,
predicts
significantly
higher
can
be
applied
both
Asian
Caucasian
practice.Taichung
Veterans
General
Hospital,
Japan
Society
Promotion
Science
KAKENHI
Grant
Number
JP21KK0293.
International Journal of Molecular Sciences,
Journal Year:
2023,
Volume and Issue:
24(7), P. 6775 - 6775
Published: April 5, 2023
Diabetes
is
a
chronic,
metabolic
disease
characterized
by
high
blood
sugar
levels.
Among
the
main
types
of
diabetes,
type
2
most
common.
Early
diagnosis
and
treatment
can
prevent
or
delay
onset
complications.
Previous
studies
examined
application
machine
learning
techniques
for
prediction
pathology,
here
an
artificial
neural
network
shows
very
promising
results
as
possible
valuable
aid
in
management
prevention
diabetes.
Additionally,
its
superior
ability
long-term
predictions
makes
it
ideal
choice
this
field
study.
We
utilized
methods
to
uncover
previously
undiscovered
associations
between
individual's
health
status
development
with
goal
accurately
predicting
determining
risk
level.
Our
study
employed
binary
classifier,
trained
on
scratch,
identify
potential
nonlinear
relationships
diabetes
set
parameters
obtained
from
patient
measurements.
Three
datasets
were
utilized,
i.e.,
National
Center
Health
Statistics'
(NHANES)
biennial
survey,
MIMIC-III
MIMIC-IV.
These
then
combined
create
single
dataset
same
number
individuals
without
Since
was
balanced,
primary
evaluation
metric
model
accuracy.
The
outcomes
encouraging,
achieving
accuracy
levels
up
86%
ROC
AUC
value
0.934.
Further
investigation
needed
improve
reliability
considering
multiple
measurements
over
time.
Diagnostics,
Journal Year:
2023,
Volume and Issue:
13(4), P. 796 - 796
Published: Feb. 20, 2023
Diabetes,
one
of
the
most
common
diseases
worldwide,
has
become
an
increasingly
global
threat
to
humans
in
recent
years.
However,
early
detection
diabetes
greatly
inhibits
progression
disease.
This
study
proposes
a
new
method
based
on
deep
learning
for
diabetes.
Like
many
other
medical
data,
PIMA
dataset
used
contains
only
numerical
values.
In
this
sense,
application
popular
convolutional
neural
network
(CNN)
models
such
data
are
limited.
converts
into
images
feature
importance
use
robust
representation
CNN
diagnosis.
Three
different
classification
strategies
then
applied
resulting
image
data.
first,
fed
ResNet18
and
ResNet50
models.
second,
features
ResNet
fused
classified
with
support
vector
machines
(SVM).
last
approach,
selected
fusion
by
SVM.
The
results
demonstrate
robustness
diagnosis
Explainable
artificial
intelligence
is
increasingly
used
in
machine
learning
(ML)
based
decision-making
systems
healthcare.
However,
little
research
has
compared
the
utility
of
different
explanation
methods
guiding
healthcare
experts
for
patient
care.
Moreover,
it
unclear
how
useful,
understandable,
actionable
and
trustworthy
these
are
experts,
as
they
often
require
technical
ML
knowledge.
This
paper
presents
an
dashboard
that
predicts
risk
diabetes
onset
explains
those
predictions
with
data-centric,
feature-importance,
example-based
explanations.
We
designed
interactive
to
assist
such
nurses
physicians,
monitoring
recommending
measures
minimize
risk.
conducted
a
qualitative
study
11
mixed-methods
45
51
diabetic
patients
compare
our
terms
understandability,
usefulness,
actionability,
trust.
Results
indicate
participants
preferred
representation
data-centric
explanations
provide
local
global
overview
over
other
methods.
Therefore,
this
highlights
importance
visually
directive
method
assisting
gain
insights
from
health
records.
Furthermore,
we
share
design
implications
tailoring
visual
experts.
BMC Medical Informatics and Decision Making,
Journal Year:
2025,
Volume and Issue:
25(1)
Published: Jan. 13, 2025
This
systematic
review
aims
to
explore
the
early
predictive
value
of
machine
learning
(ML)
models
for
progression
gestational
diabetes
mellitus
(GDM)
type
2
(T2DM).
A
comprehensive
and
search
was
conducted
in
Pubmed,
Cochrane,
Embase,
Web
Science
up
July
02,
2024.
The
quality
studies
included
assessed.
risk
bias
assessed
through
prediction
model
assessment
tool
a
graph
drawn
accordingly.
meta-analysis
performed
using
Stata15.0.
total
13
were
present
review,
involving
11,320
GDM
patients
22
ML
models.
showed
pooled
C-statistic
0.82
(95%
CI:
0.79
~
0.86),
sensitivity
0.76
(0.72
0.80),
specificity
0.57
(0.50
0.65).
has
favorable
diagnostic
accuracy
T2DM.
provides
evidence
development
tools
with
broader
applicability.