Results 151 to 160 of about 225,232 (252)

Targeted long-read nanopore sequencing as a complementary approach for detecting STRC variants and distinguishing the STRCP1 pseudogene. [PDF]

Sci Rep
Moteki H, Nishio SY, Usami SI.
europepmc   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source

VACmap: an accurate long-read aligner for unraveling complex genomic rearrangements. [PDF]

Nat Commun
Ding H, Sedlazeck FJ, Proukakis C, Morley C, Toffoli M, Schapira AH, Liao Z, Pu L, Zhu S.   +8 more
europepmc   +1 more source

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source

Large-scale capsid-mediated mobilisation of bacterial genomic DNA in the gut microbiome. [PDF]

Nat Commun
Borodovich T, Buttimer C, Wilson JS, Bardy P, Smith M, Hill C, Khokhlova EV, Harte M, Govi B, Fogg PCM, Hill C, Shkoporov AN.   +11 more
europepmc   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Phased-assembly-driven pangenome graphs for structural variant genotyping and complex trait mapping in dairy cattle. [PDF]

Nat Commun
Yang L, Gao Y, Kuhn KL, Bhowmik N, Li W, Zanton G, Fang L, Cole JB, Li C, Baldwin Vi RL, Van Tassell CP, Rosen BD, Ma L, Smith TPL, Liu GE.   +14 more
europepmc   +1 more source

Applying an Ethical Lens to the Treatment of People With Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The practice of neurology requires an understanding of clinical ethics for decision‐making. In multiple sclerosis (MS) care, there are a wide range of ethical considerations that may arise. These involve shared decision‐making around selection of a disease‐modifying therapy (DMT), risks and benefits of well‐studied medications in comparison to
Methma Udawatta, Farrah J. Mateen
wiley   +1 more source

Correction: Blossoms amid drought: a bibliometric mapping of research on drought stress in ornamental plants (1995-2025). [PDF]

Front Plant Sci
Karagüzel ÜÖ.
europepmc   +1 more source

Studying the properties of viral long reads mapping methods

The emergence of third-generation sequencing technologies, in particular the long reads produced by Oxford Nanopore Technologies and Pacific Biosciences, has profoundly changed sequence alignment strategies in bioinformatics. Initially designed to deal with short reads, mapping algorithms have had to evolve to take account of the specific ...
openaire   +1 more source