Results 231 to 240 of about 64,518 (349)

Progress in nanopore sequencing [PDF]

Nature Reviews Genetics, 2014
openaire   +1 more source

Advances in Detecting RNA Modifications Using Direct RNA Nanopore Sequencing. [PDF]

Adv Genet (Hoboken)
Liu Y, Li Y, Sun Q.
europepmc   +1 more source

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort

Movement Disorders, EarlyView.
Abstract Background Deep intronic GAA repeat expansions in intron 1 of the FGF14 gene were identified in 2023 as cause of late‐onset cerebellar ataxia. Since then, GAA‐FGF14‐related ataxia (SCA27B) has emerged as one of the most common genetic causes of late‐onset cerebellar ataxia.
Teije H. van Prooije, Maartje Pennings, Roderick P.P.W.M. Maas, Jeroen de Vries, Corien Verschuuren‐Bemelmans, Vincent Odekerken, Sirwan K.L. Darweesh, Mark Huisman, Mayke Oosterloo, Arthur Buijink, Jaron van de Wardt, Els Vanhoutte, Tsz Hang Wong, Lisette Koens, Eva de Boer, Judith van Gaalen, Martijn Beudel, Dareia S. Roos, Jorrit I. Hoff, Thimo Cornelissen, Meyke Schouten, Thatjana Gardeichik, Erica van der Looij, Christine Klein, Joanne Trinh, Erik‐Jan Kamsteeg, Bart van de Warrenburg   +26 more
wiley   +1 more source

DemuxTrans: Transformer and temporal convolution network for accurate barcode demultiplexing in nanopore sequencing. [PDF]

Bioinformatics
Shu L, Zhuang D, Tang J, Zhao J, Shao W, Guan X, Zhang D.   +6 more
europepmc   +1 more source

Nanopore direct-RNA sequencing reveals TGEV epitranscriptomic and transcriptomic landscapes modulated by gene 7 [PDF]

Qunyi Jiang, Zhihao Guo, Lu Tan, Yanwen Shao, Xiaomin Zhao, Haidong Wang, Runsheng Li   +6 more
openalex   +1 more source

Two‐Dimensional Transition Metal Dichalcogenides Properties Enhanced by Nano‐ and Micro‐Scale Shape Control

MetalMat, EarlyView.
This review explores current strategies for shaping two‐dimensional transition metal dichalcogenides (TMDs) beyond their planar form. It highlights how strain engineering, nanopatterning, and growth on complex substrates modulate their mechanical, optical, and electronic properties.
C. Grazianetti, G. Zambito, D. Campi, M. C. Giordano, F. Buatier de Mongeot, A. Molle, C. Martella   +6 more
wiley   +1 more source

Nanopore sequencing-derived methylation biomarker prediction for methylation-specific PCR in patients with head and neck squamous cell carcinoma [PDF]

Daria Meyer, Anne K. Hennig, Anna-Bawany Hums, Orlando Guntinas‐Lichius, Martina Schmitz, Manja Marz   +5 more
openalex   +1 more source

Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives

Pediatric Investigation, EarlyView.
Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
wiley   +1 more source

Whole-genome analysis of influenza A(H1N1)pdm09 viruses in Cameroon (2019-2024) using nanopore sequencing. [PDF]

BMC Infect Dis
Tsafack DT, Monamele CG, Koro Koro F, Essengue LLM, Mounchili-Njifon A, Esso L, Njankouo Ripa M, Touoyem PI, Mouliem JLM, Tamoufe U, Moumbeket-Yifomnjou MH, Njouom R.   +11 more
europepmc   +1 more source

Complete pipeline for Oxford Nanopore Technology amplicon sequencing ( ONT ‐ AmpSeq ): from pre‐processing to creating an operational taxonomic unit table [PDF]

Patrick Skov Schacksen, Stine Karstenskov Østergaard, Mathias Helmer Eskildsen, Jeppe Lund Nielsen   +3 more
openalex   +1 more source