Theoretical and Applied Genetics,
Год журнала:
2022,
Номер
135(9), С. 3211 - 3222
Опубликована: Авг. 5, 2022
Transposon
insertion
polymorphisms
can
improve
prediction
of
complex
agronomic
traits
in
rice
compared
to
using
SNPs
only,
especially
when
accessions
be
predicted
are
less
related
the
training
set.
(TIPs)
significant
sources
genetic
variation.
Previous
work
has
shown
that
TIPs
detection
causative
loci
on
rice.
Here,
we
quantify
fraction
variance
explained
by
single
nucleotide
(SNPs)
TIPs,
and
explore
whether
only
SNPs.
We
used
eleven
relevance
from
five
different
population
groups
(Aus,
Indica,
Aromatic,
Japonica,
Admixed),
738
total.
assess
applying
data
split
validation
two
scenarios.
In
within-population
scenario,
performance
improved
Indica
varieties
rest
accessions.
across
all
Aromatic
Admixed
populations.
each
Bayes
C
a
Bayesian
reproducible
kernel
Hilbert
space
regression
were
compared.
find
explain
an
important
total
they
also
genomic
prediction.
outperformed
nine
out
analyzed.
some
like
leaf
senescence
or
grain
width,
increased
predictive
correlation
30-50%.
Our
results
evidence,
for
first
time,
genotyping
rice,
Behavior Genetics,
Год журнала:
2023,
Номер
53(2), С. 75 - 84
Опубликована: Янв. 20, 2023
Abstract
A
century
after
the
first
twin
and
adoption
studies
of
behavior
in
1920s,
this
review
looks
back
on
journey
celebrates
milestones
behavioral
genetic
research.
After
a
whistle-stop
tour
early
quantitative
research
parallel
molecular
genetics,
travelogue
focuses
last
fifty
years.
Just
as
discoveries
were
beginning
to
slow
down
1990s,
genetics
made
it
possible
assess
DNA
variation
directly.
From
rocky
start
with
candidate
gene
association
research,
by
2005
technological
advance
microarrays
enabled
genome-wide
studies,
which
have
successfully
identified
some
variants
that
contribute
ubiquitous
heritability
traits.
The
ability
aggregate
effects
thousands
polygenic
scores
has
created
revolution
sciences
making
use
predict
individual
differences
from
life.
Endocrine Reviews,
Год журнала:
2024,
Номер
45(4), С. 437 - 459
Опубликована: Янв. 31, 2024
Abstract
The
treatment
of
polycystic
ovary
syndrome
(PCOS)
faces
challenges
as
all
known
treatments
are
merely
symptomatic.
US
Food
and
Drug
Administration
has
not
approved
any
drug
specifically
for
treating
PCOS.
As
the
significance
genetics
epigenetics
rises
in
development,
their
pivotal
insights
have
greatly
enhanced
efficacy
success
target
discovery
validation,
offering
promise
guiding
advancement
PCOS
treatments.
In
this
context,
we
outline
genetic
epigenetic
PCOS,
which
provide
novel
into
pathogenesis
complex
disease.
We
also
delve
prospective
method
harnessing
strategies
to
identify
potential
targets
ensure
safety.
Additionally,
shed
light
on
preliminary
evidence
distinctive
associated
with
gene
therapies
context
International Journal of Molecular Sciences,
Год журнала:
2025,
Номер
26(5), С. 2075 - 2075
Опубликована: Фев. 27, 2025
Neonatal
encephalopathy
suspected
to
be
due
hypoxic
ischaemic
(NESHIE)
carries
the
risk
of
death
or
severe
disability
(cognitive
defects
and
cerebral
palsy).
Previous
genetic
studies
on
NESHIE
have
predominantly
focused
exomes
targeted
genes.
The
objective
this
study
was
identify
variants
associated
with
moderate-severe
through
whole-genome,
unbiased
analysis.
Variant
filtering
prioritization
were
performed,
followed
by
association
testing
both
a
case-control
basis
compare
grades
severity
and/or
progression.
Association
neonates
(N
=
172)
ancestry-matched
controls
288)
produced
71
significant
(false
discovery
rate
corrected
p-value
<
6.2
×
10-4),
all
located
in
non-coding
regions
not
previously
implicated
NESHIE.
Disease-associated
are
considered
affect
regulatory
functions,
possibly
modifying
gene
expression,
promoters,
enhancers,
DNA
structure.
most
variant
at
position
6:162010973
Parkin
RBR
E3
ubiquitin
protein
ligase
(PRKN)
intron.
Intronic
also
identified
genes
involved
inflammatory
processes
(SLCO3A1),
repair
(ZGRF1),
synaptogenesis
(CNTN5),
haematopoiesis
(ASXL2),
transcriptional
response
hypoxia
(PADI4).
Ten
higher
lack
improvement
NESHIE,
including
one
ADAMTS3,
which
encodes
procollagen
amino
protease
role
angiogenesis
lymphangiogenesis.
This
analysis
represents
first
efforts
analyze
whole-genome
data
investigate
complexity
diverse
ethnolinguistic
groups
African
origin
provides
direction
for
further
study.
Theoretical and Applied Genetics,
Год журнала:
2022,
Номер
135(9), С. 3211 - 3222
Опубликована: Авг. 5, 2022
Transposon
insertion
polymorphisms
can
improve
prediction
of
complex
agronomic
traits
in
rice
compared
to
using
SNPs
only,
especially
when
accessions
be
predicted
are
less
related
the
training
set.
(TIPs)
significant
sources
genetic
variation.
Previous
work
has
shown
that
TIPs
detection
causative
loci
on
rice.
Here,
we
quantify
fraction
variance
explained
by
single
nucleotide
(SNPs)
TIPs,
and
explore
whether
only
SNPs.
We
used
eleven
relevance
from
five
different
population
groups
(Aus,
Indica,
Aromatic,
Japonica,
Admixed),
738
total.
assess
applying
data
split
validation
two
scenarios.
In
within-population
scenario,
performance
improved
Indica
varieties
rest
accessions.
across
all
Aromatic
Admixed
populations.
each
Bayes
C
a
Bayesian
reproducible
kernel
Hilbert
space
regression
were
compared.
find
explain
an
important
total
they
also
genomic
prediction.
outperformed
nine
out
analyzed.
some
like
leaf
senescence
or
grain
width,
increased
predictive
correlation
30-50%.
Our
results
evidence,
for
first
time,
genotyping
rice,
