Scientific Data,
Journal Year:
2025,
Volume and Issue:
12(1)
Published: April 15, 2025
Distinctive
facial
phenotypes
serve
as
crucial
diagnostic
markers
for
many
rare
genetic
diseases.
Although
AI-driven
image
recognition
achieves
high
accuracy,
it
often
fails
to
explain
its
predictions.
In
this
study,
we
present
the
Facial
phenotype-Gene-Disease
Dataset
(FGDD),
an
explainable
dataset
collected
from
509
research
publications.
It
contains
1,147
data
records
encompassing
197
disease-causing
genes,
437
phenotypes,
and
211
disease
entities,
with
689
having
labels.
Each
record
represents
a
patient
group
includes
demographic
information,
variation
phenotype
information.
Baseline
explainability
validations
conducted
on
FGDD
confirmed
dataset's
effectiveness.
supports
training
of
models
diseases
while
delivering
results,
provides
foundation
exploring
intricate
connections
between
diseases,
phenotypes.
Theranostics,
Journal Year:
2022,
Volume and Issue:
12(16), P. 6931 - 6954
Published: Jan. 1, 2022
Pancreatic
cancer
is
the
deadliest
disease,
with
a
five-year
overall
survival
rate
of
just
11%.The
pancreatic
patients
diagnosed
early
screening
have
median
nearly
ten
years,
compared
1.5
years
for
those
not
screening.Therefore,
diagnosis
and
treatment
are
particularly
critical.However,
as
rare
general
cost
high,
accuracy
existing
tumor
markers
enough,
efficacy
methods
exact.In
terms
diagnosis,
artificial
intelligence
technology
can
quickly
locate
high-risk
groups
through
medical
images,
pathological
examination,
biomarkers,
other
aspects,
then
lesions
early.At
same
time,
algorithm
also
be
used
to
predict
recurrence
risk,
metastasis,
therapy
response
which
could
affect
prognosis.In
addition,
widely
in
health
records,
estimating
imaging
parameters,
developing
computer-aided
systems,
etc.
Advances
AI
applications
will
require
concerted
effort
among
clinicians,
basic
scientists,
statisticians,
engineers.Although
it
has
some
limitations,
play
an
essential
role
overcoming
foreseeable
future
due
its
mighty
computing
power.
IEEE Access,
Journal Year:
2023,
Volume and Issue:
11, P. 72518 - 72536
Published: Jan. 1, 2023
Around
the
world,
brain
tumors
are
becoming
leading
cause
of
mortality.
The
inability
to
undertake
a
timely
tumor
diagnosis
is
primary
this
pandemic.
Brain
cancer
crucial
procedure
that
relies
on
expertise
and
experience
doctor.
Radiologists
must
use
an
automated
classification
model
find
cancers.
current
model's
accuracy
has
be
improved
get
suitable
therapies.
can
consult
various
computer-aided
diagnostic
(CAD)
models
in
literature
medical
imaging
assist
them
with
their
patients.
Previous
research
widely
used
CNN
for
detection
classification,
which
typically
require
large
datasets.
This
proposed
Caps-VGGNet
hybrid
model,
integrates
CapsNet
VGGNet
by
adding
layers
VGGNet.
presented
addresses
challenge
requiring
datasets
automatically
extracting
classifying
features.
suggested
algorithm's
effectiveness
was
assessed
using
Brats-2020
Brats-2019
dataset,
contains
high-quality
images
tumors.
Compared
other
conventional
models,
empirical
outcomes
indicate
it
exhibited
highest
level
superior
efficacy
terms
accuracy,
specificity,
sensitivity.
Specifically,
attained
0.99,
specificity
sensitivity
0.98
Brats20
dataset.
npj Antimicrobials and Resistance,
Journal Year:
2025,
Volume and Issue:
3(1)
Published: Jan. 7, 2025
Artificial
intelligence
(AI)
has
transformed
infectious
disease
control,
enhancing
rapid
diagnosis
and
antibiotic
discovery.
While
conventional
tests
delay
diagnosis,
AI-driven
methods
like
machine
learning
deep
assist
in
pathogen
detection,
resistance
prediction,
drug
These
tools
improve
stewardship
identify
effective
compounds
such
as
antimicrobial
peptides
small
molecules.
This
review
explores
AI
applications
diagnostics,
therapy,
discovery,
emphasizing
both
strengths
areas
needing
improvement.
Electronics,
Journal Year:
2023,
Volume and Issue:
12(21), P. 4411 - 4411
Published: Oct. 25, 2023
Artificial
intelligence
(AI)
advancements,
especially
deep
learning,
have
significantly
improved
medical
image
processing
and
analysis
in
various
tasks
such
as
disease
detection,
classification,
anatomical
structure
segmentation.
This
work
overviews
fundamental
concepts,
state-of-the-art
models,
publicly
available
datasets
the
field
of
imaging.
First,
we
introduce
types
learning
problems
commonly
employed
then
proceed
to
present
an
overview
used
methods,
including
convolutional
neural
networks
(CNNs),
recurrent
(RNNs),
generative
adversarial
(GANs),
with
a
focus
on
task
they
are
solving,
object
detection/localization,
segmentation,
generation,
registration.
Further,
highlight
studies
conducted
application
areas,
encompassing
neurology,
brain
imaging,
retinal
analysis,
pulmonary
digital
pathology,
breast
cardiac
bone
abdominal
musculoskeletal
The
strengths
limitations
each
method
carefully
examined,
paper
identifies
pertinent
challenges
that
still
require
attention,
limited
availability
annotated
data,
variability
images,
interpretability
issues.
Finally,
discuss
future
research
directions
particular
developing
explainable
methods
integrating
multi-modal
data.
Information Sciences,
Journal Year:
2024,
Volume and Issue:
662, P. 120212 - 120212
Published: Jan. 26, 2024
Interpretable
artificial
intelligence
(AI),
also
known
as
explainable
AI,
is
indispensable
in
establishing
trustable
AI
for
bench-to-bedside
translation,
with
substantial
implications
human
well-being.
However,
the
majority
of
existing
research
this
area
has
centered
on
designing
complex
and
sophisticated
methods,
regardless
their
interpretability.
Consequently,
main
prerequisite
implementing
trustworthy
medical
domains
not
been
met.
Scientists
have
developed
various
explanation
methods
interpretable
AI.
Among
these
fuzzy
rules
embedded
a
inference
system
(FIS)
emerged
novel
powerful
tool
to
bridge
communication
gap
between
humans
advanced
machines.
there
few
reviews
use
FISs
diagnosis.
In
addition,
application
different
kinds
multimodal
data
received
insufficient
attention,
despite
potential
appropriate
methodologies
available
datasets.
This
review
provides
fundamental
understanding
interpretability
rules,
conducts
comparative
analyses
other
handling
three
major
types
(i.e.,
sequence
signals,
images,
tabular
data),
offers
insights
into
rule
scenarios
recommendations
future
research.
Artificial Intelligence in Medicine,
Journal Year:
2024,
Volume and Issue:
155, P. 102935 - 102935
Published: July 26, 2024
Deep
learning
(DL)
in
orthopaedics
has
gained
significant
attention
recent
years.
Previous
studies
have
shown
that
DL
can
be
applied
to
a
wide
variety
of
orthopaedic
tasks,
including
fracture
detection,
bone
tumour
diagnosis,
implant
recognition,
and
evaluation
osteoarthritis
severity.
The
utilisation
is
expected
increase,
owing
its
ability
present
accurate
diagnoses
more
efficiently
than
traditional
methods
many
scenarios.
This
reduces
the
time
cost
diagnosis
for
patients
surgeons.
To
our
knowledge,
no
exclusive
study
comprehensively
reviewed
all
aspects
currently
used
practice.
review
addresses
this
knowledge
gap
using
articles
from
Science
Direct,
Scopus,
IEEE
Xplore,
Web
between
2017
2023.
authors
begin
with
motivation
orthopaedics,
enhance
treatment
planning.
then
covers
various
applications
detection
supraspinatus
tears
MRI,
osteoarthritis,
prediction
types
arthroplasty
implants,
age
assessment,
joint-specific
soft
tissue
disease.
We
also
examine
challenges
implementing
scarcity
data
train
lack
interpretability,
as
well
possible
solutions
these
common
pitfalls.
Our
work
highlights
requirements
achieve
trustworthiness
outcomes
generated
by
DL,
need
accuracy,
explainability,
fairness
models.
pay
particular
fusion
techniques
one
ways
increase
trustworthiness,
which
been
address
multimodality
orthopaedics.
Finally,
we
approval
set
forth
US
Food
Drug
Administration
enable
use
applications.
As
such,
aim
function
guide
researchers
develop
reliable
application
tasks
scratch
market.
Heliyon,
Journal Year:
2025,
Volume and Issue:
11(2), P. e42119 - e42119
Published: Jan. 1, 2025
Motion
disorders
affect
a
significant
portion
of
the
global
population.
While
some
symptoms
can
be
managed
with
medications,
these
treatments
often
impact
all
muscles
uniformly,
not
just
affected
ones,
leading
to
potential
side
effects
including
involuntary
movements,
confusion,
and
decreased
short-term
memory.
Currently,
there
is
no
dedicated
application
for
differentiating
healthy
from
abnormal
ones.
Existing
analysis
applications,
designed
other
purposes,
lack
essential
software
engineering
features
such
as
user-friendly
interface,
infrastructure
independence,
usability
learning
ability,
cloud
computing
capabilities,
AI-based
assistance.
This
research
proposes
computer-based
methodology
analyze
human
motion
differentiate
between
unhealthy
muscles.
First,
an
IoT-based
approach
proposed
digitize
using
smartphones
instead
hardly
accessible
wearable
sensors
markers.
The
data
then
simulated
neuromusculoskeletal
system.
An
agent-driven
modeling
method
ensures
naturalness,
accuracy,
interpretability
simulation,
incorporating
neuromuscular
details
Henneman's
size
principle,
action
potentials,
motor
units,
biomechanical
principles.
results
are
provided
medical
clinical
experts
aid
in
further
investigation.
Additionally,
deep
learning-based
ensemble
framework
assist
simulation
results,
offering
both
accuracy
interpretability.
A
graphical
interface
enhances
application's
usability.
Being
fully
cloud-based,
infrastructure-independent
accessed
on
smartphones,
PCs,
devices
without
installation.
strategy
only
addresses
current
challenges
treating
but
also
paves
way
simulations
by
considering
scientific
computational
requirements.