The Journal of Dermatology,
Год журнала:
2024,
Номер
unknown
Опубликована: Дек. 26, 2024
Abstract
Phasing,
the
process
of
determining
which
alleles
at
different
loci
on
homologous
chromosomes
belong
together
same
chromosome,
is
crucial
in
diagnosis
and
management
autosomal
recessive
diseases.
Advances
long‐read
sequencing
technologies
have
significantly
enhanced
our
ability
to
accurately
determine
haplotypes.
This
review
discusses
application
low‐coverage
sequencing,
nanopore
Cas9‐guided
adaptive
sampling
phasing,
highlighting
their
utility
complex
clinical
scenarios.
Through
vignettes,
we
explore
importance
phasing
gene
therapy
design
for
dystrophic
epidermolysis
bullosa
role
revertant
mosaicism
therapeutic
epidermal
autografts.
Despite
its
promise,
with
faces
challenges,
including
low
efficiency
enriching
target
regions
inherent
error
rate
sequencing.
Future
developments
will
be
critical
overcoming
these
limitations
expanding
applicability
across
various
settings.
Abstract
Shotgun
metagenomics
has
become
a
pivotal
technology
in
microbiome
research,
enabling
in‐depth
analysis
of
microbial
communities
at
both
the
high‐resolution
taxonomic
and
functional
levels.
This
approach
provides
valuable
insights
diversity,
interactions,
their
roles
health
disease.
However,
complexity
data
processing
need
for
reproducibility
pose
significant
challenges
to
researchers.
To
address
these
challenges,
we
developed
EasyMetagenome,
user‐friendly
pipeline
that
supports
multiple
methods,
including
quality
control
host
removal,
read‐based,
assembly‐based,
binning,
along
with
advanced
genome
analysis.
The
also
features
customizable
settings,
comprehensive
visualizations,
detailed
parameter
explanations,
ensuring
its
adaptability
across
wide
range
scenarios.
Looking
forward,
aim
refine
by
addressing
contamination
issues,
optimizing
workflows
third‐generation
sequencing
data,
integrating
emerging
technologies
like
deep
learning
network
analysis,
further
enhance
accuracy.
EasyMetageonome
is
freely
available
https://github.com/YongxinLiu/EasyMetagenome
.
Biosensors,
Год журнала:
2025,
Номер
15(1), С. 41 - 41
Опубликована: Янв. 13, 2025
In
recent
years,
environmental
and
food
safety
have
garnered
substantial
focus
due
to
their
intimate
connection
with
human
health.
Numerous
biosensors
been
developed
for
identifying
deleterious
compounds;
however,
these
reveal
certain
limitations.
Nanopore
sensors,
featuring
nano-scaled
pore
size,
demonstrated
outstanding
performance
in
terms
of
rapidity,
sensitivity,
selectivity
as
a
single-molecule
technique
surveillance.
this
review,
we
present
comprehensive
overview
nanopore
applications
two
fields.
To
elucidate
the
pioneering
roles
nanopores,
analytes
are
categorized
into
three
distinct
groups,
including
metal
ions,
synthetic
contaminants,
biotoxins.
Moreover,
variety
strategies
involved,
such
coalescence
ligand
probes,
implementation
chemical
reactions,
functionalization
etc.
These
scientific
studies
showcase
versatility
diversity
technique,
paving
way
further
developments
technology
safety.
Hematology Reports,
Год журнала:
2025,
Номер
17(2), С. 18 - 18
Опубликована: Март 28, 2025
Leukemia
is
a
heterogeneous
group
of
hematologic
malignancies
characterized
by
distinct
genetic
and
molecular
abnormalities.
Advancements
in
genomic
technologies
have
significantly
transformed
the
diagnosis,
prognosis,
treatment
strategies
for
leukemia.
Among
these,
next-generation
sequencing
(NGS)
has
emerged
as
powerful
tool,
enabling
high-resolution
profiling
that
surpasses
conventional
diagnostic
approaches.
By
providing
comprehensive
insights
into
mutations,
clonal
evolution,
resistance
mechanisms,
NGS
revolutionized
precision
medicine
leukemia
management.
Despite
its
transformative
potential,
clinical
integration
presents
challenges,
including
data
interpretation
complexities,
standardization
issues,
cost
considerations.
However,
continuous
advancements
platforms
bioinformatics
pipelines
are
enhancing
reliability
accessibility
routine
practice.
The
expanding
role
paving
way
improved
risk
stratification,
targeted
therapies,
real-time
disease
monitoring,
ultimately
leading
to
better
patient
outcomes.
This
review
highlights
impact
on
research
applications,
discussing
advantages
over
traditional
techniques,
key
approaches,
emerging
challenges.
As
oncology
continues
evolve,
expected
play
an
increasingly
central
diagnosis
management
leukemia,
driving
innovations
personalized
therapeutic
interventions.
Emerging Microbes & Infections,
Год журнала:
2025,
Номер
unknown
Опубликована: Апрель 15, 2025
Sequencing
and
bioinformatic
analysis
of
mpox
virus
(MPXV)
remain
challenging
in
resource-limited
settings.
We
developed
validated
a
PCR-based
sequencing
assay
that
targets
12.5
kilobase
(kb)
region
is
phylogenetically
representative
the
whole
∼
200
kb
MPXV
genome.
combined
this
with
lightweight,
downloadable,
on-and-off-grid-bioinformatics
pipeline
for
rapid
phylogenetic
analysis.
Our
findings
demonstrate
simplified
method,
associated
bioinformatics
accurately
distinguished
clades,
subclades,
clusters
MPXV.
Therefore,
will
provide
sequence
information
understanding
transmission
patterns
sources
outbreaks
In
addition,
provides
unique
opportunity
to
decentralize
molecular
surveillance
capacities
are
needed
contain
ongoing
outbreak.
Scientific Reports,
Год журнала:
2025,
Номер
15(1)
Опубликована: Апрель 18, 2025
Low
temperatures
and
drought
reduce
forage
yield
quality,
with
protein
kinases
crucial
for
plant
stress
response.
This
study
examines
the
LcC2DPs
kinase
family
in
Lotus
corniculatus,
identifying
90
members,
some
tandemly
distributed
on
chromosomes
2-6,
grouped
into
5
subfamilies
(I-V).
34
homologous
gene
pairs
were
found
Arabidopsis
thaliana.
LcC2DP
genes
promoters
contain
hormone
response
elements.
GO
analysis
highlights
enrichment
activity.
Transcriptomic
links
78
to
environmental
growth,
10
validated
by
qRT-PCR
after
treatment
100
μM
ABA
IAA,
20%
PEG6000,
4
°C.
Protein
interaction
identifies
core
proteins
(LcC2DP5,
11,
15,
38,
58)
activated
cold
stress.
Gene
revealed
that
only
LcC2DP5
LcC2DP15
share
co-expression
transcription
factors,
bZIP,
bHLH,
WRKY,
NAC,
MYB-related,
MYB,
C3H,
C2H2
being
prominent.
These
are
expressed
under
conditions,
highlighting
NAC
vital
response,
while
bZIP
MYB-related
important
suggests
various
corniculatus
respond
hormones
via
a
TF
regulatory
network.
