Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann +17 more
wiley +1 more source
Substantial regional variation in substitution rates in the human genome: importance of GC content, gene density and telomere-specific effects [PDF]
This study presents the first global, 1 Mbp level analysis of patterns of nucleotide substitutions along the human lineage. The study is based on the analysis of a large amount of repetitive elements deposited into the human genome since the mammalian ...
Arndt, Peter F +2 more
core
Metal-poor hypervelocity star candidates from the Sloan Digital Sky Survey
Hypervelocity stars are believed to be ejected out from the Galactic center through dynamical interactions of (binary) stars with the central massive black hole(s).
Abadi +31 more
core +1 more source
A comparison of GC-FID and PTR-MS toluene measurements in ambient air under conditions of enhanced monoterpene loading [PDF]
Toluene was measured using both a gas chromatographic system (GC), with a flame ionization detector (FID), and a proton transfer reaction-mass spectrometer (PTR-MS) at the AIRMAP atmospheric monitoring station Thompson Farm (THF) in rural Durham, NH ...
Ambrose, Jesse L. +9 more
core +4 more sources
Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini +28 more
wiley +1 more source
Sensory descriptive analysis of aged feng-flavored Baijiu liquor indicated notable differences in samples of different ages. The samples of freshly distilled Baijiu and those with shorter storage times exhibit bran and fresh green flavors, whereas, with ...
Jinmei Ren, Zhijian Li, Wei Jia
doaj +1 more source
The role of diet and other environmental factors in the causation of gastric cancer in Iran—A population based study [PDF]
Despite a declining trend in the incidence of gastric cancer (GC), it is still a major global public health concern of the 21st century. The rates of GC reported from Ardabil Province, Iran, are among the highest in the world.
Acquavella +88 more
core +1 more source
Seasonal Variation of Essential Oil Yield and Composition of Sage (Salvia officinalis L.) Grown in Castilla - La Mancha (Central Spain) [PDF]
Links between phenology, yield and composition of the essential oil of common sage, Salvia officinalis L., grown in Guadalajara (Central Spain) were determined in the different phases of the biological cycle during one year.
Arrabal Miguel, Carlos +2 more
core +3 more sources
GcDUO: an open-source software for GC × GC–MS data analysis
Abstract Comprehensive 2D gas chromatography coupled with mass spectrometry (GC × GC–MS) is a powerful analytical technique. However, the complexity and volume of data generated pose significant challenges for data processing and interpretation, limiting a broader adoption.
Llambrich, Maria +8 more
openaire +2 more sources
Location‐Specific Hematoma Volume Predicts Early Neurological Deterioration in Supratentorial ICH
ABSTRACT Objective Early neurological deterioration (END) adversely affects outcomes in patients with intracerebral hemorrhage (ICH). This study aimed to determine the location‐specific hematoma volumes for END in supratentorial ICH patients. Methods We retrospectively analyzed supratentorial ICH patients presenting from two prospective cohorts.
Zuoqiao Li +10 more
wiley +1 more source

