Results 51 to 60 of about 25,431 (290)

Porechop_ABI: discovering unknown adapters in Oxford Nanopore Technology sequencing reads for downstream trimming

Bioinformatics Advances, 2022
Abstract Motivation Oxford Nanopore Technologies (ONT) sequencing has become very popular over the past few years and offers a cost-effective solution for many genomic and transcriptomic projects. One distinctive feature of the technology is that the protocol includes the ligation of adapters to both ...
Bonenfant, Quentin, Noé, Laurent, Touzet, Hélène   +2 more
openaire   +3 more sources

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

High resolution long-read telomere sequencing reveals dynamic mechanisms in aging and cancer

Nature Communications
Telomeres are the protective nucleoprotein structures at the end of linear eukaryotic chromosomes. Telomeres’ repetitive nature and length have traditionally challenged the precise assessment of the composition and length of individual human telomeres ...
Tobias T. Schmidt, Carly Tyer, Preeyesh Rughani, Candy Haggblom, Jeffrey R. Jones, Xiaoguang Dai, Kelly A. Frazer, Fred H. Gage, Sissel Juul, Scott Hickey, Jan Karlseder   +10 more
doaj   +1 more source

Consistent ultra-long DNA sequencing with automated slow pipetting

BMC Genomics, 2021
Background Oxford Nanopore Technologies’ instruments can sequence reads of great length. Long reads improve sequence assemblies by unambiguously spanning repetitive elements of the genome.
Trent M. Prall, Emma K. Neumann, Julie A. Karl, Cecilia G. Shortreed, David A. Baker, Hailey E. Bussan, Roger W. Wiseman, David H. O’Connor   +7 more
doaj   +1 more source

Evaluation of the Available Variant Calling Tools for Oxford Nanopore Sequencing in Breast Cancer

, 2022
The goal of biomarker testing, in the field of personalized medicine, is to guide treatments to achieve the best possible results for each patient. The accurate and reliable identification of everyone’s genome variants is essential for the success ...
Bishoy T. Saad, Khaled M. Aboshanab, Mosaad, Gamal S., Helal, Asmaa A., Saad, Bishoy T., Mina T. Saad, Saad, Mina T., Aboshanab, Khaled M., Asmaa A. Helal, Gamal S. Mosaad   +9 more
core   +1 more source

Is Oxford Nanopore Technology ready for clinical diagnostics?

, 2017
Bridging the “valley of death” between scientific and technological innovation and clinical implementation. Quality considerations for read mapping, variant calling and deletion mapping with Long Read Sequencing.
Taylor, Graham R., Kesia Brown, Bond, Andrew, Yau, Michael   +3 more
openaire   +1 more source

Comprehensive Wet-Bench and Bioinformatics Workflow for Complex Microbiota Using Oxford Nanopore Technologies

mSystems, 2021
Advanced microbiome analysis relies on sequencing of short DNA fragments from microorganisms like bacteria, fungi, and viruses. More recently, long fragment DNA sequencing of 3rd generation sequencing has gained increasing importance and can be rapidly conducted within a few hours due to its potential real-time sequencing.
Ammer-Herrmenau, Christoph, Pfisterer, Nina, van den Berg, Tim, Gavrilova, Ivana, Amanzada, Ahmad, Singh, Shiv, Khalil, Alaa, Alili, Rohia, Belda, Eugeni, Clement, Karine, Abd El Wahed, Ahmed, Gady, Elsagad Eltayeb, Haubrock, Martin, Beißbarth, Tim, Ellenrieder, Volker, Neesse, Albrecht   +15 more
openaire   +6 more sources

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

MethPhaser: methylation-based long-read haplotype phasing of human genomes

Nature Communications
The assignment of variants across haplotypes, phasing, is crucial for predicting the consequences, interaction, and inheritance of mutations and is a key step in improving our understanding of phenotype and disease.
Yilei Fu, Sergey Aganezov, Medhat Mahmoud, John Beaulaurier, Sissel Juul, Todd J. Treangen, Fritz J. Sedlazeck   +6 more
doaj   +1 more source

Combined use of Oxford Nanopore and Illumina sequencing yields insights into soybean structural variation biology

BMC Biology, 2022
Background Structural variants (SVs), including deletions, insertions, duplications, and inversions, are relatively long genomic variations implicated in a diverse range of processes from human disease to ecology and evolution.
Marc-André Lemay, Jonas A. Sibbesen, Davoud Torkamaneh, Jérémie Hamel, Roger C. Levesque, François Belzile   +5 more
doaj   +1 more source