Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders. [PDF]
Background/Objectives: Short-read-sequencing (SRS) is currently the standard for genetic testing in inherited human diseases. Intrinsic limitations include PCR dependency, restricted read length, and challenges in identifying structural variants (SVs), copy number variations (CNVs), and intronic small variants (SNVs/indels).
Urtis M +19 more
europepmc +5 more sources
Simulation of RNA sequencIng with Oxford Nanopore Technologies [PDF]
International audienceBackground 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).
Marchet, Camille, Lima, Leandro
core +2 more sources
Complete sequence verification of plasmid DNA using the Oxford Nanopore Technologies' MinION device. [PDF]
Abstract Background Sequence verification is essential for plasmids used as critical reagents or therapeutic products. Typically, high-quality plasmid sequence is achieved through capillary-based Sanger sequencing, requiring customized sets of primers for each plasmid.
Brown SD +4 more
europepmc +4 more sources
Amplicon sequencing with Oxford nanopore technologies as a diagnostic alternative for small ruminant lentiviruses in sheep. [PDF]
[Data availability] The datasets generated and analysed during the current study are available in the ENA European Nucleotide Archive repository, https://www.ebi.ac.uk/ena/browser/text-search? query=PRJEB98261.
Serrano M +7 more
europepmc +4 more sources
Benchmarking Illumina and Oxford Nanopore Technologies (ONT) sequencing platforms for whole genome sequencing of bacterial genomes and use in clinical microbiology [PDF]
Background In microbial diagnostics, whole-genome sequencing (WGS) is used to address key questions such as species identification, presence of antimicrobial resistance genes (ARGs), virulence genes, and outbreak detection.
Srinithi Purushothaman +3 more
doaj +3 more sources
Comprehensive comparison of Pacific Biosciences and Oxford Nanopore Technologies and their applications to transcriptome analysis [version 2; referees: 2 approved] [PDF]
Background: Given the demonstrated utility of Third Generation Sequencing [Pacific Biosciences (PacBio) and Oxford Nanopore Technologies (ONT)] long reads in many studies, a comprehensive analysis and comparison of their data quality and applications is ...
de Cesare, M +18 more
core +5 more sources
Application of Oxford Nanopore Technology to Plant Virus Detection [PDF]
The adoption of Oxford Nanopore Technologies (ONT) sequencing as a tool in plant virology has been relatively slow despite its promise in more recent years to yield large quantities of long nucleotide sequences in real time without the need for prior amplification.
Lia W. Liefting +2 more
openaire +3 more sources
Oxford Nanopore Technology and its Application in Liquid Biopsies
Abstract: Advanced medical technologies are transforming the future of healthcare, in particular, the screening and detection of molecular-genetic changes in patients suspected of having a neoplasm. They are based on the assumption that neoplasms release small amounts of various neoplasm- specific molecules, such as tumor DNA, called circulating DNA ...
Levkova, Mariya +3 more
openaire +2 more sources
Optimizing experimental design for genome sequencing and assembly with Oxford Nanopore Technologies [PDF]
Abstract Background High quality reference genome sequences are the core of modern genomics. Oxford Nanopore Technologies (ONT) produces inexpensive DNA sequences in excess of 100,000 nucleotides but high error rates make sequence assembly and analysis a non-trivial problem as ...
John M. Sutton +3 more
openaire +4 more sources
Oxford Nanopore and Bionano Genomics technologies evaluation for plant structural variation detection [PDF]
Abstract Background Structural Variations (SVs) are very diverse genomic rearrangements. In the past, their detection was restricted to cytological approaches, then to NGS read size and partitionned assemblies.
Canaguier, Aurélie +10 more
openaire +5 more sources

