Results 211 to 220 of about 63,196 (293)

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

open access: yesClinical Genetics, EarlyView.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem   +2 more
wiley   +1 more source

ViMOP: a user-friendly and field-applicable pipeline for untargeted viral genome nanopore sequencing. [PDF]

open access: yesBioinformatics
Petersen NP   +14 more
europepmc   +1 more source

Long‐read sequencing‐based atlas of tissue‐specific expression of DNM1L transcript variants

open access: yesThe FEBS Journal, EarlyView.
Targeted long‐read sequencing resolves full‐length DNM1L (Drp1) isoforms and reveals conserved, tissue‐specific expression patterns across human and mouse tissues. Functional assays show that Drp1 isoforms differ in their ability to drive mitochondrial fission, independent of abundance, with specific exons modulating activity.
Feng Yan   +19 more
wiley   +1 more source

Evaluation of a Probe-Based Enrichment Protocol for Nanopore Sequencing of Zoonotic Viruses. [PDF]

open access: yesViruses
Hawes K   +9 more
europepmc   +1 more source

Whole Genome Assembly and Annotation of Two Invasive Sitona Species

open access: yesJournal of Applied Entomology, EarlyView.
ABSTRACT Weevils are a highly diversified taxon, comprising about 70,000 described species, including many of high economic importance. Here, we present whole genome assemblies and annotations of two Sitona species (Coleoptera: Curculionidae: Entiminae).
Mandira Katuwal   +4 more
wiley   +1 more source

Exploiting nanopore sequencing advances for tRNA sequencing of human cancer models. [PDF]

open access: yesNAR Cancer
Kochavi A   +6 more
europepmc   +1 more source

Bony fish genomes: Status and gaps

open access: yesJournal of Fish Biology, EarlyView.
Abstract Bony fish constitute an exceptionally species‐rich group of aquatic vertebrates, comprising more than 95% of all living fish. The adaptive processes on the diversity of environments they inhabit make them a highly diverse group from taxonomic, morphological and evolutionary standpoints.
Noelia Pérez‐Pereira   +3 more
wiley   +1 more source

Employing nanopore sequencing on FFPE-derived DNA for CNS tumor diagnostics. [PDF]

open access: yesActa Neuropathol Commun
Kerbs P   +22 more
europepmc   +1 more source

Diagnosis of Mycobacteriosis in Cultured Hybrid Tilapia (Oreochromis spp.) in Trinidad and Tobago

open access: yesJournal of Fish Diseases, EarlyView.
ABSTRACT Mycobacteriosis is a significant disease in fish husbandry, with negative impacts on production facilities. Moreover, some Mycobacterium spp. that infect fish have zoonotic potential. Morbidity and mortality events at hybrid tilapia (Oreochromis spp.) farms in Trinidad and Tobago (T&T) associated with mycobacterial infections prompted a ...
Lemar Blake   +7 more
wiley   +1 more source

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