Results 1 to 10 of about 998,588 (389)

Forensic SNP genotyping using nanopore MinION sequencing [PDF]

, 2017
One of the latest developments in next generation sequencing is the Oxford Nanopore Technologies' (ONT) MinION nanopore sequencer. We studied the applicability of this system to perform forensic genotyping of the forensic female DNA standard 9947 A using
Cornelis, Senne, Deforce, Dieter, Deleye, Lieselot, Gansemans, Yannick, Van Nieuwerburgh, Filip   +4 more
core   +2 more sources

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

Genome Medicine, 2019
Background Intrachromosomal triplications (TRP) can contribute to disease etiology via gene dosage effects, gene disruption, position effects, or fusion gene formation.
Claudia M. B. Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton, Eoghan Harrington, John Beaulaurier, Sissel Juul, Daniel J. Turner, Rupa S. Kanchi, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Baylor-Hopkins Center for Mendelian Genomics, Pawel Stankiewicz, John W. Belmont, Chad A. Shaw, Sau Wai Cheung, Neil A. Hanchard, V. Reid Sutton, Patricia I. Bader, James R. Lupski   +21 more
doaj   +1 more source

Nanopore-based metagenomic sequencing for the rapid and precise detection of pathogens among immunocompromised cancer patients with suspected infections

Frontiers in Cellular and Infection Microbiology, 2022
Cancer patients are at high risk of infections and infection-related mortality; thereby, prompt diagnosis and precise anti-infectives treatment are critical.
Qingmei Deng, Qingmei Deng, Qingmei Deng, Yongqing Cao, Xiaofeng Wan, Xiaofeng Wan, Bin Wang, Aimin Sun, Aimin Sun, Huanzhong Wang, Huanzhong Wang, Yunfei Wang, Hongzhi Wang, Hongzhi Wang, Hongzhi Wang, Hongcang Gu, Hongcang Gu, Hongcang Gu   +17 more
doaj   +1 more source

Performance of neural network basecalling tools for Oxford Nanopore sequencing

Genome Biology, 2019
Basecalling, the computational process of translating raw electrical signal to nucleotide sequence, is of critical importance to the sequencing platforms produced by Oxford Nanopore Technologies (ONT).
R. Wick, L. Judd, K. Holt
semanticscholar   +1 more source

Application of Nanopore Sequencing in the Diagnosis and Treatment of Pulmonary Infections

Molecular Diagnosis & Therapy, 2023
This review provides an in-depth discussion of the development, principles and utility of nanopore sequencing technology and its diverse applications in the identification of various pulmonary pathogens.
Jie Chen, Feng Xu
semanticscholar   +1 more source

Rolling circle reverse transcription enables high fidelity nanopore sequencing of small RNA.

PLoS ONE, 2022
Small RNAs (sRNAs) are an important group of non-coding RNAs that have great potential as diagnostic and prognostic biomarkers for treatment of a wide variety of diseases. The portability and affordability of nanopore sequencing technology makes it ideal
Sean Maguire, Shengxi Guan
doaj   +2 more sources

MinION Analysis and Reference Consortium: Phase 1 data release and analysis [PDF]

, 2015
The advent of a miniaturized DNA sequencing device with a high-throughput contextual sequencing capability embodies the next generation of large scale sequencing tools.
Benedict Paten, Bonnie L. Brown, Camilla L.C. Ip, David A. Eccles, David Buck, Elizabeth M. Batty, Ewan Birney, Hans J. Jansen, Hugh E. Olsen, Jared T. Simpson, John M. Urban, John R. Tyson, Justin O'Grady, Mariateresa de Cesare, Matthew Loose, MinION Analysis and Reference Consortium, Miten Jain, Paolo Piazza, Richard M. Leggett, Rory J. Bowden, Sara Goodwin, Solomon Mwaigwisya, Terrance P. Snutch, Vadim Zalunin   +23 more
core   +2 more sources

Fast nanopore sequencing data analysis with SLOW5

Nature Biotechnology, 2022
Nanopore sequencing depends on the FAST5 file format, which does not allow efficient parallel analysis. Here we introduce SLOW5, an alternative format engineered for efficient parallelization and acceleration of nanopore data analysis.
Hasindu Gamaarachchi, Hiruna Samarakoon, Sasha P. Jenner, James M. Ferguson, T. Amos, J. Hammond, Hassaan Saadat, Martin A. Smith, S. Parameswaran, I. Deveson   +9 more
semanticscholar   +1 more source

Simulation of Nanopore Sequencing Signals Based on BiGRU

Sensors, 2020
Oxford Nanopore sequencing is an important sequencing technology, which reads the nucleotide sequence by detecting the electrical current signal changes when DNA molecule is forced to pass through a biological nanopore.
Weigang Chen, Peng Zhang, Lifu Song, Jinsheng Yang, Changcai Han   +4 more
doaj   +1 more source

Nanopore sequencing and assembly of a human genome with ultra-long reads

Nature Biotechnology, 2017
We report the sequencing and assembly of a reference genome for the human GM12878 Utah/Ceph cell line using the MinION (Oxford Nanopore Technologies) nanopore sequencer.
Miten Jain, S. Koren, K. Miga, J. Quick, Arthur C. Rand, T. Sasani, J. R. Tyson, A. Beggs, A. Dilthey, Ian T. Fiddes, S. Malla, Hannah Marriott, T. Nieto, J. O’Grady, Hugh E. Olsen, Brent S. Pedersen, A. Rhie, H. Richardson, A. Quinlan, T. Snutch, L. Tee, B. Paten, A. Phillippy, J. Simpson, N. Loman, M. Loose   +25 more
semanticscholar   +1 more source