A reference genome assembly of the alpine forage grass Elymus nutans. [PDF]
Chang D +24 more
europepmc +1 more source
Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou +12 more
wiley +1 more source
Machine learning-augmented m6A-Seq analysis without a reference genome. [PDF]
Yang J +8 more
europepmc +1 more source
Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies
ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan +22 more
wiley +1 more source
A chromosome-level reference genome assembly of the Small snakehead (Channa asiatica). [PDF]
Liu H +9 more
europepmc +1 more source
Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki +8 more
wiley +1 more source
A haplotype-resolved chromosomal reference genome for the porcini mushroom Boletus edulis. [PDF]
Brejon Lamartinière E +4 more
europepmc +1 more source
Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
Annotated genome of Aedes japonicus japonicus using a hybrid-assembly approach
Friederike Reuss +11 more
doaj +1 more source
A chromosomal-scale reference genome for Rosa hugonis. [PDF]
Liang Z +8 more
europepmc +1 more source

