Genome biology,
Journal Year:
2021,
Volume and Issue:
22(1)
Published: Sept. 7, 2021
Local
genetic
correlation
quantifies
the
similarity
of
complex
traits
in
specific
genomic
regions.
However,
accurate
estimation
local
remains
challenging,
due
to
linkage
disequilibrium
regions
and
sample
overlap
across
studies.
We
introduce
SUPERGNOVA,
a
statistical
framework
estimate
correlations
using
summary
statistics
from
genome-wide
association
demonstrate
that
SUPERGNOVA
outperforms
existing
methods
through
simulations
analyses
30
traits.
In
particular,
we
show
positive
yet
paradoxical
between
autism
spectrum
disorder
cognitive
performance
could
be
explained
by
two
etiologically
distinct
signatures
with
bidirectional
correlations.
Circulation,
Journal Year:
2021,
Volume and Issue:
143(8)
Published: Jan. 27, 2021
The
American
Heart
Association,
in
conjunction
with
the
National
Institutes
of
Health,
annually
reports
most
up-to-date
statistics
related
to
heart
disease,
stroke,
and
cardiovascular
risk
factors,
including
core
health
behaviors
(smoking,
physical
activity,
diet,
weight)
factors
(cholesterol,
blood
pressure,
glucose
control)
that
contribute
health.
Statistical
Update
presents
latest
data
on
a
range
major
clinical
circulatory
disease
conditions
(including
congenital
rhythm
disorders,
subclinical
atherosclerosis,
coronary
failure,
valvular
venous
peripheral
artery
disease)
associated
outcomes
quality
care,
procedures,
economic
costs).The
through
its
Statistics
Committee,
continuously
monitors
evaluates
sources
stroke
United
States
provide
current
information
available
annual
Update.
2021
is
product
full
year's
worth
effort
by
dedicated
volunteer
clinicians
scientists,
committed
government
professionals,
Association
staff
members.
This
edition
includes
monitoring
benefits
population,
an
enhanced
focus
social
determinants
health,
adverse
pregnancy
outcomes,
vascular
contributions
brain
global
burden
further
evidence-based
approaches
changing
disease.Each
27
chapters
focuses
different
topic
statistics.The
represents
critical
resource
for
lay
public,
policy
makers,
media
clinicians,
care
administrators,
researchers,
advocates,
others
seeking
best
these
conditions.
Circulation,
Journal Year:
2022,
Volume and Issue:
145(8)
Published: Jan. 26, 2022
The
American
Heart
Association,
in
conjunction
with
the
National
Institutes
of
Health,
annually
reports
most
up-to-date
statistics
related
to
heart
disease,
stroke,
and
cardiovascular
risk
factors,
including
core
health
behaviors
(smoking,
physical
activity,
diet,
weight)
factors
(cholesterol,
blood
pressure,
glucose
control)
that
contribute
health.
Statistical
Update
presents
latest
data
on
a
range
major
clinical
circulatory
disease
conditions
(including
congenital
rhythm
disorders,
subclinical
atherosclerosis,
coronary
failure,
valvular
venous
peripheral
artery
disease)
associated
outcomes
quality
care,
procedures,
economic
costs).
Circulation,
Journal Year:
2023,
Volume and Issue:
147(8)
Published: Jan. 25, 2023
Background:
The
American
Heart
Association,
in
conjunction
with
the
National
Institutes
of
Health,
annually
reports
most
up-to-date
statistics
related
to
heart
disease,
stroke,
and
cardiovascular
risk
factors,
including
core
health
behaviors
(smoking,
physical
activity,
diet,
weight)
factors
(cholesterol,
blood
pressure,
glucose
control)
that
contribute
health.
Statistical
Update
presents
latest
data
on
a
range
major
clinical
circulatory
disease
conditions
(including
congenital
rhythm
disorders,
subclinical
atherosclerosis,
coronary
failure,
valvular
venous
peripheral
artery
disease)
associated
outcomes
quality
care,
procedures,
economic
costs).
Methods:
through
its
Epidemiology
Prevention
Statistics
Committee,
continuously
monitors
evaluates
sources
stroke
United
States
provide
current
information
available
annual
review
published
literature
year
before
writing.
2023
is
product
full
year’s
worth
effort
2022
by
dedicated
volunteer
clinicians
scientists,
committed
government
professionals,
Association
staff
members.
strives
further
understand
help
heal
problems
inflicted
structural
racism,
public
crisis
can
significantly
damage
mental
perpetuate
disparities
access
education,
income,
housing,
several
other
vital
healthy
lives.
This
edition
includes
additional
COVID-19
(coronavirus
2019)
publications,
as
well
monitoring
benefits
population,
an
enhanced
focus
equity
across
key
domains.
Results:
Each
chapters
focuses
different
topic
statistics.
Conclusions:
represents
critical
resource
for
lay
public,
policymakers,
media
clinicians,
care
administrators,
researchers,
advocates,
others
seeking
best
these
conditions.
Circulation,
Journal Year:
2024,
Volume and Issue:
149(8)
Published: Jan. 24, 2024
BACKGROUND:
The
American
Heart
Association
(AHA),
in
conjunction
with
the
National
Institutes
of
Health,
annually
reports
most
up-to-date
statistics
related
to
heart
disease,
stroke,
and
cardiovascular
risk
factors,
including
core
health
behaviors
(smoking,
physical
activity,
nutrition,
sleep,
obesity)
factors
(cholesterol,
blood
pressure,
glucose
control,
metabolic
syndrome)
that
contribute
health.
AHA
Disease
Stroke
Statistical
Update
presents
latest
data
on
a
range
major
clinical
circulatory
disease
conditions
(including
brain
health,
complications
pregnancy,
kidney
congenital
rhythm
disorders,
sudden
cardiac
arrest,
subclinical
atherosclerosis,
coronary
cardiomyopathy,
failure,
valvular
venous
thromboembolism,
peripheral
artery
disease)
associated
outcomes
quality
care,
procedures,
economic
costs).
METHODS:
AHA,
through
its
Epidemiology
Prevention
Statistics
Committee,
continuously
monitors
evaluates
sources
stroke
United
States
globally
provide
current
information
available
annual
review
published
literature
year
before
writing.
2024
is
product
full
year’s
worth
effort
2023
by
dedicated
volunteer
clinicians
scientists,
committed
government
professionals,
staff
members.
strives
further
understand
help
heal
problems
inflicted
structural
racism,
public
crisis
can
significantly
damage
mental
perpetuate
disparities
access
education,
income,
housing,
several
other
vital
healthy
lives.
This
edition
includes
additional
global
data,
as
well
monitoring
benefits
population,
an
enhanced
focus
equity
across
key
domains.
RESULTS:
Each
chapters
focuses
different
topic
statistics.
CONCLUSIONS:
represents
critical
resource
for
lay
public,
policymakers,
media
clinicians,
care
administrators,
researchers,
advocates,
others
seeking
best
these
conditions.
Circulation,
Journal Year:
2018,
Volume and Issue:
138(21)
Published: Oct. 16, 2018
This
review
provides
an
updated
summary
of
the
state
our
knowledge
genetic
contributions
to
pathogenesis
congenital
heart
disease.
Since
2007,
when
initial
American
Heart
Association
scientific
statement
on
basis
disease
was
published,
new
genomic
techniques
have
become
widely
available
that
dramatically
changed
understanding
causes
and,
clinically,
allowed
more
accurate
definition
pathogeneses
in
patients
all
ages
and
even
prenatally.
Information
is
presented
molecular
testing
their
application
disease,
both
isolated
associated
with
other
anomalies
or
syndromes.
Recent
advances
copy
number
variants,
syndromes,
RASopathies,
heterotaxy/ciliopathies
are
provided.
Insights
into
research
models,
including
genetically
manipulated
animals
such
as
mice,
chicks,
zebrafish,
well
human
induced
pluripotent
stem
cell-based
approaches
provided
allow
how
future
breakthroughs
for
likely
happen.
It
anticipated
this
will
provide
a
large
range
health
care-related
personnel,
pediatric
cardiologists,
pediatricians,
adult
thoracic
surgeons,
obstetricians,
geneticists,
counselors,
related
clinicians,
timely
information
aspects
The
objective
comprehensive
interdisciplinary
care
those
Human Mutation,
Journal Year:
2021,
Volume and Issue:
43(8), P. 1012 - 1030
Published: Dec. 3, 2021
Reference
population
databases
are
an
essential
tool
in
variant
and
gene
interpretation.
Their
use
guides
the
identification
of
pathogenic
variants
amidst
sea
benign
variation
present
every
human
genome,
supports
discovery
new
disease–gene
relationships.
The
Genome
Aggregation
Database
(gnomAD)
is
currently
largest
most
widely
used
publicly
available
collection
from
harmonized
sequencing
data.
data
through
online
gnomAD
browser
(https://gnomad.broadinstitute.org/)
that
enables
rapid
intuitive
analysis.
This
review
provides
guidance
on
content
browser,
its
usage
for
We
introduce
key
features
including
allele
frequency,
per-base
expression
levels,
constraint
scores,
co-occurrence,
alongside
how
to
these
analysis,
with
a
focus
interpretation
candidate
novel
genes
rare
disease.
Science,
Journal Year:
2018,
Volume and Issue:
362(6420)
Published: Dec. 14, 2018
INTRODUCTION
The
DNA
of
protein-coding
genes
is
transcribed
into
mRNA,
which
translated
proteins.
“coding
genome”
describes
the
that
contains
information
to
make
these
proteins
and
represents
~1.5%
human
genome.
Newly
arising
de
novo
mutations
(variants
observed
in
a
child
but
not
either
parent)
coding
genome
contribute
numerous
childhood
developmental
disorders,
including
autism
spectrum
disorder
(ASD).
Discovery
effects
aided
by
triplet
code
enables
functional
impact
many
be
readily
deciphered.
In
contrast,
“noncoding
covers
remaining
~98.5%
includes
elements
regulate
when,
where,
what
degree
are
transcribed.
Understanding
this
noncoding
sequence
could
provide
insights
disorders
refined
control
emerging
genetic
therapies.
Yet
little
known
about
role
regions,
whether
they
most
vulnerable
disruption,
manner
encoded
RATIONALE
Whole-genome
sequencing
(WGS)
provides
opportunity
identify
majority
variation
each
individual.
By
performing
WGS
on
1902
quartet
families
affected
with
ASD,
one
unaffected
sibling
control,
their
parents,
we
identified
~67
across
child’s
To
characterize
mutations,
integrated
multiple
datasets
relating
gene
function,
implicated
neurodevelopmental
conservation
species,
epigenetic
markers,
thereby
combinatorially
defining
55,143
categories.
scope
problem—testing
for
an
excess
cases
relative
controls
category—is
challenging
because
there
more
categories
than
families.
RESULTS
Comparing
controls,
individual
overcome
challenge
detecting
association,
used
machine
learning
tools
develop
risk
score
look
This
demonstrated
contribution
ASD
from
weaker,
significant,
mutations.
signal
was
driven
promoter
region,
defined
as
2000
nucleotides
upstream
transcription
start
site
(TSS)
where
mRNA
synthesis
starts.
strongest
signals
were
species
factor
binding
sites.
Well-defined
(e.g.,
TATA-box)
usually
within
80
TSS;
however,
association
distally,
750
TSS.
CONCLUSION
We
conclude
ASD.
clearest
evidence
came
at
evolutionarily
conserved
region.
enrichment
sites,
primarily
distal
promoter,
suggests
may
disrupt
via
interaction
enhancer
rather
interfering
transcriptional
initiation
directly.
Promoter
regions
autism.
De
assigned
annotation
categories,
assessed
(ASD)
comparing
mutation
counts
controls.
A
especially
sites
or
targeted
factors.