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Results 121 to 130 of about 25,431 (290)

From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long‐Read Transcriptomics

Movement Disorders, EarlyView.
Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade +8 more
wiley +1 more source

Global plasmidome analysis in sewage samples: new perspectives on microbial adaptation and antimicrobial resistance.

, 2023
noneI plasmidi possono fornire un vantaggio selettivo per i microorganismi, permettendo loro di sopravvivere e adattarsi a nuove condizioni ambientali.
BISSON, NAZARENO
core

Comparison of Illumina and Oxford Nanopore Technology systems for the genomic characterization of Streptococcus pneumoniae

Microbiology Spectrum
ABSTRACT Whole-genome sequencing (WGS) is an invaluable tool that enables high-resolution genotyping to precisely identify bacterial strains. It is particularly significant for highly pathogenic bacteria such as Streptococcus pneumoniae , a worldwide leading cause of ...
Fatima Dakroub +51 more
openaire +3 more sources

Frequency of ZFHX3‐Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia 4 (SCA4) is a late‐onset dominant ataxia with neuropathy caused by exonic GGC repeat expansion in the ZFHX3 gene thought to originate from a Swedish founder event. The GC‐rich expansion is highly thermodynamically stable, posing challenges for standard clinical genetic testing methods.
Annie Chen +320 more
wiley +1 more source

Oxford Nanopore Technologies (ONT) direct RNA sequencing v1

Step-by-step protocol describing the workflow for ONT direct RNA sequencing including: - RNA extraction - mRNA poly(A) selection - library preparation for ONT direct RNA sequencing - ONT direct RNA data analysis
Anita Adami, Raquel Garza
openaire +1 more source

Nanopore Sequencing for HPV in Oropharyngeal Squamous Cell Carcinoma and Benign Tonsil Specimens

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objectives Human papillomavirus (HPV) accounts for the majority of oropharyngeal squamous cell carcinoma (OPSCC) cases in the United States but understanding the prevalence of high‐risk HPV in oropharyngeal tissue remains poor. We evaluated nanopore sequencing, a novel rapid, and long‐read sequencing platform, on OPSCC tissue and tested it in ...
Mikayla G. Hubbard +5 more
wiley +1 more source

Metadata record for: Shotgun metagenome data of a defined mock community using Oxford Nanopore, PacBio and Illumina technologies

, 2019
This dataset contains key characteristics about the data described in the Data Descriptor Shotgun metagenome data of a defined mock community using Oxford Nanopore, PacBio and Illumina technologies.
Jan-Fang Cheng (48619) +19 more
core +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan +9 more
wiley +1 more source

Nanopore Adaptive sampling: A powerful approach to decipher the genetic diversity of the NLRome/resistome in melon

, 2023
International audienceNucleotide-binding-site-leucine-rich-repeat (NLR) disease resistance genes encode the most important family of plant resistance proteins. Moreover, due to the dynamic evolutionary interactions between plants and pathogens, NLR genes
Belinchon-Moreno, Javier
core +1 more source

Emergence of Dengue Virus Serotype 2 Cosmopolitan Genotype, Colombia

Emerging Infectious Diseases
Using Oxford Nanopore technologies and phylogenetic analyses, we sequenced and identified the cosmopolitan genotype of dengue virus serotype 2 isolated from 2 patients in the city of Villavicencio, Meta department, Colombia. This identification suggests
David Martínez +8 more
doaj +1 more source

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nanopore sequencing
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next-generation sequencing
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