Human Genetics and Genomics Advances,
Год журнала:
2022,
Номер
3(4), С. 100136 - 100136
Опубликована: Авг. 18, 2022
Publicly
available
genome-wide
association
studies
(GWAS)
summary
statistics
exhibit
uneven
quality,
which
can
impact
the
validity
of
follow-up
analyses.
First,
we
present
an
overview
possible
misspecifications
that
come
with
GWAS
statistics.
Then,
in
both
simulations
and
real-data
analyses,
show
additional
information
such
as
imputation
INFO
scores,
allele
frequencies,
per-variant
sample
sizes
be
used
to
detect
issues
correct
for
One
important
motivation
us
is
improve
predictive
performance
polygenic
scores
built
from
these
Unfortunately,
owing
lack
reporting
standards
statistics,
this
not
systematically
reported.
We
also
using
well-matched
linkage
disequilibrium
(LD)
references
model
fit
translate
into
more
accurate
prediction.
Finally,
discuss
how
make
score
methods
lassosum
LDpred2
robust
their
power.
Cell Genomics,
Год журнала:
2023,
Номер
3(8), С. 100361 - 100361
Опубликована: Июль 20, 2023
The
China
Kadoorie
Biobank
(CKB)
is
a
population-based
prospective
cohort
of
>512,000
adults
recruited
from
2004
to
2008
10
geographically
diverse
regions
across
China.
Detailed
data
questionnaires
and
physical
measurements
were
collected
at
baseline,
with
additional
three
resurveys
involving
∼5%
surviving
participants.
Analyses
genome-wide
genotyping,
for
>100,000
participants
using
custom-designed
Axiom
arrays,
reveal
extensive
relatedness,
recent
consanguinity,
signatures
reflecting
large-scale
population
movements
Chinese
history.
Systematic
association
studies
incident
disease,
captured
through
electronic
linkage
death
disease
registries
the
national
health
insurance
system,
replicate
established
loci
identify
14
novel
associations.
Together
candidate
drug
targets
risk
factors
contributions
international
genetics
consortia,
these
demonstrate
breadth,
depth,
quality
CKB
data.
Ongoing
high-throughput
omics
assays
biosamples
planned
whole-genome
sequencing
will
further
enhance
scientific
value
this
biobank.
Genes,
Год журнала:
2023,
Номер
14(6), С. 1235 - 1235
Опубликована: Июнь 8, 2023
Phenotypes
of
athletic
performance
and
exercise
capacity
are
complex
traits
influenced
by
both
genetic
environmental
factors.
This
update
on
the
panel
markers
(DNA
polymorphisms)
associated
with
athlete
status
summarises
recent
advances
in
sports
genomics
research,
including
findings
from
candidate
gene
genome-wide
association
(GWAS)
studies,
meta-analyses,
involving
larger-scale
initiatives
such
as
UK
Biobank.
As
end
May
2023,
a
total
251
DNA
polymorphisms
have
been
status,
which
128
were
positively
at
least
two
studies
(41
endurance-related,
45
power-related,
42
strength-related).
The
most
promising
include
Cell Genomics,
Год журнала:
2023,
Номер
3(1), С. 100241 - 100241
Опубликована: Янв. 1, 2023
Polygenic
risk
scores
(PRSs)
have
been
widely
explored
in
precision
medicine.
However,
few
studies
thoroughly
investigated
their
best
practices
global
populations
across
different
diseases.
We
here
utilized
data
from
Global
Biobank
Meta-analysis
Initiative
(GBMI)
to
explore
methodological
considerations
and
PRS
performance
9
biobanks
for
14
disease
endpoints.
Specifically,
we
constructed
PRSs
using
pruning
thresholding
(P
+
T)
PRS-continuous
shrinkage
(CS).
For
both
methods,
a
European-based
linkage
disequilibrium
(LD)
reference
panel
resulted
comparable
or
higher
prediction
accuracy
compared
with
several
other
non-European-based
panels.
PRS-CS
overall
outperformed
the
classic
P
T
method,
especially
endpoints
SNP-based
heritability.
Notably,
is
heterogeneous
endpoints,
biobanks,
ancestries,
asthma,
which
has
known
variation
prevalence
populations.
Overall,
provide
lessons
construction,
evaluation,
interpretation
GBMI
resources
highlight
importance
of
biobank-scale
genomics
era.
The
human
skeletal
form
underlies
bipedalism,
but
the
genetic
basis
of
proportions
(SPs)
is
not
well
characterized.
We
applied
deep-learning
models
to
31,221
x-rays
from
UK
Biobank
extract
a
comprehensive
set
SPs,
which
were
associated
with
145
independent
loci
genome-wide.
Structural
equation
modeling
suggested
that
limb
exhibited
strong
sharing
width
and
torso
proportions.
Polygenic
score
analysis
identified
specific
associations
between
osteoarthritis
hip
knee
SPs.
In
contrast
other
traits,
SP
enriched
in
accelerated
regions
regulatory
elements
genes
are
differentially
expressed
humans
great
apes.
Combined,
our
work
identifies
variants
affect
ties
major
evolutionary
facet
anatomical
change
pathogenesis.
Forensic Science International Genetics,
Год журнала:
2023,
Номер
65, С. 102870 - 102870
Опубликована: Апрель 7, 2023
Forensic
DNA
Phenotyping
(FDP)
comprises
the
prediction
of
a
person's
externally
visible
characteristics
regarding
appearance,
biogeographic
ancestry
and
age
from
crime
scene
samples,
to
provide
investigative
leads
help
find
unknown
perpetrators
that
cannot
be
identified
with
forensic
STR-profiling.
In
recent
years,
FDP
has
advanced
considerably
in
all
its
three
components,
which
we
summarize
this
review
article.
Appearance
broadened
beyond
eye,
hair
skin
color
additionally
comprise
other
traits
such
as
eyebrow
color,
freckles,
structure,
loss
men,
tall
stature.
Biogeographic
inference
progressed
continental
sub-continental
detection
resolving
co-ancestry
patterns
genetically
admixed
individuals.
Age
estimation
widened
blood
more
somatic
tissues
saliva
bones
well
new
markers
tools
for
semen.
Technological
progress
allowed
forensically
suitable
technology
largely
increased
multiplex
capacity
simultaneous
analysis
hundreds
predictors
targeted
massively
parallel
sequencing
(MPS).
Forensically
validated
MPS-based
predicting
i)
several
appearance
traits,
ii)
multi-regional
ancestry,
iii)
together
iv)
different
tissue
types,
are
already
available.
Despite
advances
will
likely
increase
impact
criminal
casework
near
future,
moving
reliable
level
detail
accuracy
police
investigators
may
desire,
requires
further
intensified
scientific
research
technical
developments
validations
necessary
funding.
Molecular Psychiatry,
Год журнала:
2023,
Номер
28(7), С. 2716 - 2727
Опубликована: Май 2, 2023
Alzheimer's
disease
(AD)
is
considered
to
have
a
large
genetic
component.
Our
knowledge
of
this
component
has
progressed
over
the
last
10
years,
thanks
notably
advent
genome-wide
association
studies
and
establishment
consortia
that
make
it
possible
analyze
hundreds
thousands
cases
controls.
The
characterization
dozens
chromosomal
regions
associated
with
risk
developing
AD
(in
some
loci)
causal
genes
responsible
for
observed
signal
confirmed
involvement
major
pathophysiological
pathways
(such
as
amyloid
precursor
protein
metabolism)
opened
up
new
perspectives
central
role
microglia
inflammation).
Furthermore,
large-scale
sequencing
projects
are
starting
reveal
impact
rare
variants
-
even
in
like
APOE
on
risk.
This
increasingly
comprehensive
now
being
disseminated
through
translational
research;
particular,
development
risk/polygenic
scores
helping
identify
subpopulations
more
at
or
less
AD.
Although
difficult
assess
efforts
still
needed
comprehensively
characterize
AD,
several
lines
research
can
be
improved
initiated.
Ultimately,
genetics
combination
other
biomarkers)
might
help
redefine
boundaries
relationships
between
various
neurodegenerative
diseases.
Science,
Год журнала:
2023,
Номер
380(6644), С. 485 - 490
Опубликована: Май 4, 2023
Autoimmune
diseases
display
a
high
degree
of
comorbidity
within
individuals
and
families,
suggesting
shared
risk
factors.
Over
the
past
15
years,
genome-wide
association
studies
have
established
polygenic
basis
these
common
conditions
revealed
widespread
sharing
genetic
effects,
indicative
immunopathology.
Despite
ongoing
challenges
in
determining
precise
genes
molecular
consequences
variants,
functional
experiments
integration
with
multimodal
genomic
data
are
providing
valuable
insights
into
key
immune
cells
pathways
driving
diseases,
potential
therapeutic
implications.
Moreover,
ancient
populations
shedding
light
on
contribution
pathogen-driven
selection
pressures
to
increased
prevalence
autoimmune
disease.
This
Review
summarizes
current
understanding
disease
genetics,
including
mechanisms,
evolutionary
origins.
