BMC Bioinformatics,
Journal Year:
2019,
Volume and Issue:
20(1)
Published: Aug. 28, 2019
Mining
epistatic
loci
which
affects
specific
phenotypic
traits
is
an
important
research
issue
in
the
field
of
biology.
Bayesian
network
(BN)
a
graphical
model
can
express
relationship
between
genetic
and
phenotype.
Until
now,
it
has
been
widely
used
into
epistasis
mining
many
work.
However,
this
method
two
disadvantages:
low
learning
efficiency
easy
to
fall
local
optimum.
Genetic
algorithm
excellence
rapid
global
search
avoiding
falling
It
scalable
integrate
with
other
algorithms.
This
work
proposes
approach
based
on
tabu
(Epi-GTBN).
uses
heuristic
strategy
network.
The
individual
structure
be
evolved
through
operations
selection,
crossover
mutation.
help
find
optimal
structure,
then
further
mine
effectively.
In
order
enhance
diversity
population
obtain
more
effective
solution,
we
use
mutation
algorithm.
accelerate
convergence
We
compared
Epi-GTBN
recent
algorithms
using
both
simulated
real
datasets.
experimental
results
demonstrate
that
our
much
better
detection
accuracy
case
not
affecting
for
different
presented
methodology
(Epi-GTBN)
detection,
seen
as
interesting
addition
arsenal
complex
analyses.
Cancer Genomics & Proteomics,
Journal Year:
2018,
Volume and Issue:
15(1)
Published: Jan. 2, 2018
Machine
learning
with
maximization
(support)
of
separating
margin
(vector),
called
support
vector
machine
(SVM)
learning,
is
a
powerful
classification
tool
that
has
been
used
for
cancer
genomic
or
subtyping.
Today,
as
advancements
in
high-throughput
technologies
lead
to
production
large
amounts
and
epigenomic
data,
the
feature
SVMs
expanding
its
use
genomics,
leading
discovery
new
biomarkers,
drug
targets,
better
understanding
driver
genes.
Herein
we
reviewed
recent
progress
studies.
We
intend
comprehend
strength
SVM
future
perspective
applications.
International Neurourology Journal,
Journal Year:
2014,
Volume and Issue:
18(2), P. 50 - 50
Published: Jan. 1, 2014
In
this
article
we
introduce
modern
statistical
machine
learning
and
bioinformatics
approaches
that
have
been
used
in
relationships
from
big
data
medicine
behavioral
science
typically
include
clinical,
genomic
(and
proteomic)
environmental
variables.
Every
year,
collected
biomedical
is
getting
larger
more
complicated.
Thus,
medicine,
also
need
to
be
aware
of
trend
understand
the
tools
are
available
analyze
these
datasets.
Many
analyses
aimed
such
datasets
introduced
recently.
However,
given
many
different
types
genomic,
data,
it
rather
uncommon
see
methods
combine
knowledge
resulting
those
types.
To
extent,
will
terms
clinical
single
nucleotide
polymorphism
gene
expression
studies
their
interactions
with
environment.
article,
concept
well-known
regression
as
linear
logistic
regressions
has
widely
models
Bayesian
networks
complicated
data.
Also
discuss
how
represent
interaction
among
using
models.
We
conclude
a
promising
method
called
suitable
analyzing
sets
consists
type
large
Such
model
form
provide
us
comprehensive
understanding
human
physiology
disease.
Keywords:
analysis;
Statistical
interpretation;
Systems
biology
Briefings in Bioinformatics,
Journal Year:
2012,
Volume and Issue:
14(2), P. 251 - 260
Published: May 18, 2012
Because
of
the
complexity
gene–phenotype
relationships
machine
learning
approaches
have
considerable
appeal
as
a
strategy
for
modelling
interactions.
A
number
such
methods
been
developed
and
applied
in
recent
years
with
some
modest
success.
Progress
is
hampered
by
challenges
presented
disease
genetic
data,
including
phenotypic
heterogeneity,
polygenic
forms
inheritance
variable
penetrance,
combined
analytical
computational
issues
arising
from
enormous
potential
We
review
here
current
focusing,
wherever
possible,
on
applications
to
real
data
(particularly
context
genome-wide
association
studies)
looking
ahead
further
posed
next
generation
sequencing
data.
Frontiers in Human Neuroscience,
Journal Year:
2013,
Volume and Issue:
7
Published: Jan. 1, 2013
Amyotrophic
lateral
sclerosis
(ALS)
is
a
devastating
disease
with
lifetime
risk
of
∼1
in
2000.
Presently,
diagnosis
ALS
relies
on
clinical
assessments
for
upper
motor
neuron
and
lower
deficits
multiple
body
segments
together
history
progression
symptoms.
In
addition,
it
common
to
evaluate
pathology
by
electromyography.
However,
solely
assessed
grounds,
thus
hindering
diagnosis.
the
past
decade
magnetic
resonance
methods
have
been
shown
be
sensitive
process,
namely:
resting-state
connectivity
measured
functional
MRI,
cortical
thickness
high-resolution
imaging,
diffusion
tensor
imaging
(DTI)
metrics
such
as
fractional
anisotropy
radial
diffusivity,
more
recently
spectroscopy
(MRS)
measures
gamma-aminobutyric
acid
concentration.
this
present
work
we
utilize
independent
component
analysis
derive
brain
networks
based
use
those
derived
build
state
classifier
using
machine
learning
(support-vector
machine).
We
show
that
possible
achieve
over
71%
accuracy
classification.
These
results
are
promising
development
clinically
relevant
classifier.
Future
inclusion
other
MR
modalities
structural
DTI
MRS
should
improve
overall
accuracy.
PLoS ONE,
Journal Year:
2016,
Volume and Issue:
11(12), P. e0167331 - e0167331
Published: Dec. 1, 2016
Background
Despite
significant
advances
in
quantitative
neuroimaging,
the
diagnosis
of
ALS
remains
clinical
and
MRI-based
biomarkers
are
not
currently
used
to
aid
diagnosis.
The
objective
this
study
is
develop
a
robust,
disease-specific,
multimodal
classification
protocol
validate
its
diagnostic
accuracy
independent,
early-stage
follow-up
data
sets.
Methods
147
participants
(81
patients
66
healthy
controls)
were
divided
into
training
sample
validation
sample.
Patients
underwent
imaging
longitudinally.
After
removing
age-related
variability,
indices
grey
white
matter
integrity
ALS-specific
pathognomonic
brain
regions
included
cross-validated
binary
logistic
regression
model
determine
probability
individual
scans
indicating
ALS.
following
anatomical
assessed
for
classification:
average
density
left
right
precentral
gyrus,
fractional
anisotropy
radial
diffusivity
superior
corona
radiata,
inferior
internal
capsule,
mesencephalic
crus
cerebral
peduncles,
pontine
segment
corticospinal
tract,
values
genu,
corpus
splenium
callosum.
Results
Using
50%
cut-off
value
suffering
from
ALS,
was
able
discriminate
HC
with
good
sensitivity
(80.0%)
moderate
(70.0%)
(85.7%)
(78.4%)
independent
Conclusions
This
endeavours
advance
biomarker
research
towards
pragmatic
applications
by
providing
an
approach
automated
individual-data
interpretation
based
on
group-level
observations.
European Journal of Neurology,
Journal Year:
2016,
Volume and Issue:
23(8), P. 1361 - 1371
Published: May 21, 2016
Background
and
purpose
Magnetic
resonance
diffusivity
indices
have
been
repeatedly
proposed
as
biomarkers
of
neurodegeneration
in
amyotrophic
lateral
sclerosis
(
ALS
),
but
no
consensus
exists
to
which
parameter
is
the
most
sensitive
identify
early
degenerative
changes.
Despite
numerous
studies,
surprisingly
little
known
segmental
vulnerability
corticospinal
tracts
corpus
callosum.
Our
objective
was
characterize
core
three‐dimensional
white
matter
signature
,
describe
phenotype‐specific
patterns
degeneration
evaluate
profile
individual
patients
controls
specific
segments.
Methods
A
large
neuroimaging
study
undertaken
with
62
55
age‐matched
healthy
controls.
White
alterations
were
explored
based
on
fractional
anisotropy
radial,
mean
axial
indices.
Atlas‐based
region
interest
analyses
carried
out
corona
radiata,
internal
capsules,
cerebral
peduncles,
splenium,
body
genu
Percentage
change
receiver
operating
characteristic
ROC
)
curves
used
disease‐state
discriminating
measures
regions.
Results
Bulbar
onset
exhibit
extensive
corticobulbar
tract
involvement
capsule
fibres
radiata
subjacent
bulbar
representation
motor
homunculus.
Spinal
show
predominantly
posterior
medial
pathology.
curve
revealed
that
crura
best
discriminate
(area
under
80.1%).
Conclusions
Amyotrophic
associated
a
core,
disease‐specific
demonstrated
by
radial
measurements.
The
main
phenotypes
are
manifestations
relatively
selective
fibres.
BMC Bioinformatics,
Journal Year:
2010,
Volume and Issue:
11(S3)
Published: April 1, 2010
Detecting
epistatic
interactions
associated
with
complex
and
common
diseases
can
help
to
improve
prevention,
diagnosis
treatment
of
these
diseases.
With
the
development
genome-wide
association
studies
(GWAS),
designing
powerful
robust
computational
method
for
identifying
becomes
a
great
challenge
bioinformatics
society,
because
study
often
deals
large
size
genotyped
data
huge
amount
combinations
all
possible
genetic
factors.
Most
existing
detection
methods
are
based
on
classification
capacity
SNP
sets,
which
may
fail
identify
sets
that
strongly
introduce
lot
false
positives.
In
addition,
most
not
suitable
scale
due
their
complexity.
We
propose
new
Markov
Blanket-based
method,
DASSO-MB
(Detection
ASSOciations
using
Blanket)
detect
in
case-control
GWAS.
blanket
target
variable
T
completely
shield
from
other
variables.
Thus,
we
guarantee
set
detected
by
has
strong
contains
fewest
Furthermore,
uses
heuristic
search
strategy
calculating
between
variables
avoid
time-consuming
training
process
as
machine-learning
methods.
apply
our
algorithm
simulated
datasets
real
dataset.
compare
commonly-used
show
significantly
outperforms
is
capable
finding
SNPs
Our
shows
minimal
causal
diseases,
less
positives
compared
Given
genomic
dataset
produced
GWAS,
this
critical
saving
potential
costs
biological
experiments
being
an
efficient
guideline
pathogenesis
research.
BioMed Research International,
Journal Year:
2013,
Volume and Issue:
2013, P. 1 - 13
Published: Jan. 1, 2013
Recently,
the
greatest
statistical
computational
challenge
in
genetic
epidemiology
is
to
identify
and
characterize
genes
that
interact
with
other
environment
factors
bring
effect
on
complex
multifactorial
disease.
These
gene-gene
interactions
are
also
denoted
as
epitasis
which
this
phenomenon
cannot
be
solved
by
traditional
method
due
high
dimensionality
of
data
occurrence
multiple
polymorphism.
Hence,
there
several
machine
learning
methods
solve
such
problems
identifying
susceptibility
gene
neural
networks
(NNs),
support
vector
(SVM),
random
forests
(RFs)
common
This
paper
gives
an
overview
methods,
describing
methodology
each
its
application
detecting
gene-environment
interactions.
Lastly,
discussed
presents
strengths
weaknesses
human
BMC Systems Biology,
Journal Year:
2012,
Volume and Issue:
6(S3)
Published: Dec. 1, 2012
Abstract
Background
Detecting
epistatic
interactions
plays
a
significant
role
in
improving
pathogenesis,
prevention,
diagnosis,
and
treatment
of
complex
human
diseases.
Applying
machine
learning
or
statistical
methods
to
interaction
detection
will
encounter
some
common
problems,
e.g.,
very
limited
number
samples,
an
extremely
high
search
space,
large
false
positives,
ways
measure
the
association
between
disease
markers
phenotype.
Results
To
address
problems
computational
detection,
we
propose
score-based
Bayesian
network
structure
method,
EpiBN,
detect
interactions.
We
apply
proposed
method
both
simulated
datasets
three
real
datasets.
Experimental
results
on
simulation
data
show
that
our
outperforms
other
commonly-used
terms
power
sample-efficiency,
is
especially
suitable
for
detecting
with
weak
no
marginal
effects.
Furthermore,
scalable
data.
Conclusions
network-based
In
develop
new
scoring
function,
which
can
reflect
higher-order
by
estimating
model
complexity
from
data,
fast
Branch-and-Bound
algorithm
learn
two-layer
containing
only
one
target
node.
make
use
Markov
chain
Monte
Carlo
(MCMC)
perform
screening
process.
Applications
GWAS
(genome-wide
studies)
may
provide
helpful
insights
into
understanding
genetic
basis
Age-related
Macular
Degeneration,
late-onset
Alzheimer's
disease,
autism.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration,
Journal Year:
2016,
Volume and Issue:
17(7-8), P. 561 - 570
Published: April 18, 2016
A
large
multiparametric
MRI
study
has
been
undertaken
to
evaluate
anatomical
patterns
of
basal
ganglia,
white
matter
and
cortical
grey
involvement
in
ALS.
Unaffected
brain
regions
are
mapped
patients
with
significant
disability.
Multiple
diffusivity
measures,
density
alterations,
ganglia
volumes
subcortical
atrophy
evaluated.
Results
demonstrated
a
strikingly
selective
vulnerability
pattern
ALS
that
preferentially
affects
specific
structures,
commissural
tracts
regions,
suggestive
networkwise
neurodegeneration
In
conclusion,
pathology
exhibits
predilection
for
inter-connected
sites
can
be
comprehensively
characterized
vivo
by
neuroimaging.
The
systematic
characterization
unaffected
implications
the
development
classifier
analyses
elucidation
disease
biology.
sparing
contiguous
raises
important
pathophysiological,
phylogenetic
ontogenetic
questions
regarding
pathogenesis
spread.