Results 11 to 20 of about 37,057 (264)

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

SMAdd-seq: probing chromatin accessibility with small molecule DNA intercalation and nanopore sequencing. [PDF]

Nucleic Acids Res
Bai G, Dhillon N, Felton C, Meissner B, Saint-John B, Shelansky R, Meyerson E, Hrabeta-Robinson E, Hodjat B, Boeger H, Brooks AN.   +10 more
europepmc   +2 more sources

DNA methylation-calling tools for Oxford Nanopore sequencing: a survey and human epigenome-wide evaluation

Genome Biology, 2021
Background Nanopore long-read sequencing technology greatly expands the capacity of long-range, single-molecule DNA-modification detection. A growing number of analytical tools have been developed to detect DNA methylation from nanopore sequencing reads.
Yang Liu, Wojciech Rosikiewicz, Ziwei Pan, Nathaniel Jillette, Ping Wang, Aziz Taghbalout, Jonathan Foox, Christopher Mason, Martin Carroll, Albert Cheng, Sheng Li   +10 more
doaj   +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

Metagenomic identification of severe pneumonia pathogens in mechanically-ventilated patients: a feasibility and clinical validity study

Respiratory Research, 2019
Background Metagenomic sequencing of respiratory microbial communities for pathogen identification in pneumonia may help overcome the limitations of culture-based methods. We examined the feasibility and clinical validity of rapid-turnaround metagenomics
Libing Yang, Ghady Haidar, Haris Zia, Rachel Nettles, Shulin Qin, Xiaohong Wang, Faraaz Shah, Sarah F. Rapport, Themoula Charalampous, Barbara Methé, Adam Fitch, Alison Morris, Bryan J. McVerry, Justin O’Grady, Georgios D. Kitsios   +14 more
doaj   +1 more source

Application of nanopore adaptive sequencing in pathogen detection of a patient with Chlamydia psittaci infection

Frontiers in Cellular and Infection Microbiology, 2023
IntroductionNanopore sequencing has been widely used in clinical metagenomic sequencing for pathogen detection with high portability and real-time sequencing.
Yanfeng Lin, Yanfeng Lin, Yan Dai, Shuang Zhang, Shuang Zhang, Hao Guo, Lang Yang, Jinhui Li, Kaiying Wang, Ming Ni, Ming Ni, Zongqian Hu, Zongqian Hu, Leili Jia, Huiying Liu, Peng Li, Hongbin Song, Hongbin Song   +17 more
doaj   +1 more source

From squiggle to basepair: computational approaches for improving nanopore sequencing read accuracy

Genome Biology, 2018
Nanopore sequencing is a rapidly maturing technology delivering long reads in real time on a portable instrument at low cost. Not surprisingly, the community has rapidly taken up this new way of sequencing and has used it successfully for a variety of ...
Franka J. Rang, Wigard P. Kloosterman, Jeroen de Ridder   +2 more
doaj   +1 more source

NanoSTR: A method for detection of target short tandem repeats based on nanopore sequencing data

Frontiers in Molecular Biosciences, 2023
Short tandem repeats (STRs) are widely present in the human genome. Studies have confirmed that STRs are associated with more than 30 diseases, and they have also been used in forensic identification and paternity testing.
Jidong Lang, Zhihua Xu, Yue Wang, Jiguo Sun, Zhi Yang   +4 more
doaj   +1 more source

Application of Nanopore Sequencing for High Throughput Genotyping in Horses

Animals, 2023
Nanopore sequencing is a third-generation biopolymer sequencing technique that relies on monitoring the changes in an electrical current that occur as nucleic acids are passed through a protein nanopore.
Artur Gurgul, Igor Jasielczuk, Tomasz Szmatoła, Sebastian Sawicki, Ewelina Semik-Gurgul, Bogusława Długosz, Monika Bugno-Poniewierska   +6 more
doaj   +1 more source

The Evolution of Nanopore Sequencing

Frontiers in Genetics, 2015
The $1,000 Genome project has been drawing increasing attention since its launch a decade ago. Nanopore sequencing, the third-generation, is believed to be one of the most promising sequencing technologies to reach four gold standards set for the $1,000 ...
Yue eWang, Qiuping eYang, Zhimin eWang
doaj   +1 more source