Results 81 to 90 of about 23,440 (247)

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Pasteurella multocida genome assembly of Indonesian local isolates using long-read Oxford Nanopore Technology sequencing

Open Veterinary Journal
Background: Pasteurella multocida is a Gram-negative bacterium responsible for various diseases in animals, including Haemorrhagic Septicaemia (HS). Oxford Nanopore Technologies' platform streams sequencing data immediately, allowing for on-the-fly
Sri Suryatmiati Prihandani, I. Wayan Teguh Wibawan, Susan Maphilindawati Noor, Safika Safika, Aswin Rafif Khairullah, Susanti Susanti, Sutiastuti Wahyuwardani, Andriani Andriani, Sumarningsih Sumarningsih, Heri Kurnianto, Tati Ariyanti, Yudi Adinata, Harimurti Nuradji, Alif Rahman Rohim Puarada   +13 more
doaj   +1 more source

De novo yeast genome assemblies from MinION, PacBio and MiSeq platforms

Scientific Reports, 2017
Long-read sequencing technologies such as Pacific Biosciences and Oxford Nanopore MinION are capable of producing long sequencing reads with average fragment lengths of over 10,000 base-pairs and maximum lengths reaching 100,000 base- pairs.
Francesca Giordano, Louise Aigrain, Michael A Quail, Paul Coupland, James K Bonfield, Robert M Davies, German Tischler, David K Jackson, Thomas M Keane, Jing Li, Jia-Xing Yue, Gianni Liti, Richard Durbin, Zemin Ning   +13 more
doaj   +1 more source

A cost‐effective DNA extraction protocol for long‐read sequencing in non‐model plants

Applications in Plant Sciences, EarlyView.
Abstract Premise Third‐generation sequencing has revolutionized genomics, enabling in‐depth analysis of genome sequence, structure, and epigenetic features. Yet, extracting high‐quality DNA for long‐read sequencing remains a bottleneck—particularly in non‐model plants, such as mature trees growing in natural environments, which often contain abundant ...
Sofia Gaischuk, Cintia F. Marchetti, Ezequiel Petrillo, Fernando A. Rabanal, Detlef Weigel, Nicolás Bellora, M. Verónica Arana   +6 more
wiley   +1 more source

The usefulness of nanopore sequencing in whole-genome sequencing-based genotyping of Listeria monocytogenes and Salmonella enterica serovar Enteritidis

Microbiology Spectrum
Bacterial genotyping through whole-genome sequencing plays a crucial role in disease surveillance and outbreak investigations in public health laboratories.
Yu-Ping Hong, Bo-Han Chen, You-Wun Wang, Ru-Hsiou Teng, Hsiao-Lun Wei, Chien-Shun Chiou   +5 more
doaj   +1 more source

Simulation of RNA sequencIng with Oxford Nanopore Technologies

, 2018
Background Oxford Nanopore Technologies (ONT) platforms produce reads order of magnitudes longer than previous generation of sequencers such as Illumina (several tens to thousands of base pairs). The unprecedented long range information these reads provide is currently used to better solve genomic assembly.
Marchet, Camille, Lima, Leandro
openaire   +1 more source

Molecular methods for differentiating Phragmites australis subspecies and identification of hybrid stands in the Upper Midwestern United States

Applications in Plant Sciences, EarlyView.
Abstract Premise In North America, Phragmites australis (common reed) has drawn a great deal of research attention. Non‐native P. australis subsp. australis is a noxious weed that has locally displaced native P. australis subsp. americanus in some areas.
Nicholas P. Tippery, Daniel J. Larkin, Julia Bohnen, Douglas L. Wendell, Neil O. Anderson, Susan M. Galatowitsch, Marie Abbey, Alan G. Smith, Andrzej K. Noyszewski   +8 more
wiley   +1 more source

Improving the diagnosis of cassava mosaic begomoviruses using Oxford Nanopore Technology sequencing

Scientific Reports
Abstract Cassava mosaic disease (CMD), caused by begomoviruses such as African cassava mosaic virus (ACMV) and East African cassava mosaic virus (EACMV), poses a threat to food security in sub-Saharan Africa. Conventional PCR assays often fail to detect viral strains in symptomatic plants due to high genetic variability and ...
Combala, Mariam, Tibiri, Ezechiel B., Pita, Justin S., Eni, Angela O., Sawadogo, Seydou, Name, Pakyendou E., Zongo, Saïdou, Kouhoumouri, Poupouanou, Sagnon, Adama, Efekemo, Oghenevwairhe P., Onile-ere, Olabode, Oppong, Allen, Ndougonna, Cyrielle, Tiendrébéogo, Fidèle   +13 more
openaire   +3 more sources

In Vivo Cytoskeletal AMPA Receptor Transport Imaging in C. elegans

Cytoskeleton, EarlyView.
ABSTRACT Long‐distance intracellular transport of ionotropic glutamate receptors (iGluRs) is essential for proper excitatory synaptic function underlying learning and memory. Many neuropsychiatric and neurodegenerative conditions have abnormal iGluR transport and trafficking, leading to an intense interest in the mechanisms and factors regulating these
Michaelis A. K., Hoerndli F. J.
wiley   +1 more source

NaMeco - Nanopore full-length 16S rRNA gene reads clustering and annotation

BMC Genomics
Background Nanopore sequencing is currently one of the leading third-generation sequencing technologies on the market and is gaining popularity among researchers.
Timur Yergaliyev, Bibiana Rios-Galicia, Amélia Camarinha-Silva   +2 more
doaj   +1 more source