Results 41 to 50 of about 63,196 (293)

Reversible positioning of single molecules inside zero-mode waveguides [PDF]

, 2014
We have developed a hybrid nanopore/zero-mode waveguide device for single-molecule fluorescence and DNA sequencing applications. The device is a freestanding solid-state membrane with sub-5 nm nanopores that reversibly delivers individual biomolecules to
Foquet, Mathieu, Korlach, Jonas, Larkin, Joseph, Turner, Stephen W., Wanunu, Meni   +4 more
core   +2 more sources

Circlator: automated circularization of genome assemblies using long sequencing reads [PDF]

, 2015
The assembly of DNA sequence data is undergoing a renaissance thanks to emerging technologies capable of producing reads tens of kilobases long.
Harris, Simon R., Hunt, Martin, Keane, Jacqueline A., Otto, Thomas D., Parkhill, Julian, Silva, Nishadi De   +5 more
core   +3 more sources

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

Nanopore sequencing in human genetic studies: application to structural variant detection [PDF]

, 2019
Background: Nanopore sequencing is a recent technology which allows direct real-time sequencing of DNA or RNA molecules and production of read lengths as long as the size of the original fragments.
Silva, Catarina, Vieira, Luís
core  

Correlation Dynamics and Enhanced Signals for Serial DNA Sequencing

, 2013
Nanopore based sequencing has demonstrated significant potential for the development of fast, accurate, and cost-efficient fingerprinting techniques for next generation molecular detection and sequencing.
Ahmed, Towfiq, Balatsky, Alexander V., Di Ventra, Massimiliano, Haraldsen, Jason T., Rehr, John J., Schuller, Ivan K.   +5 more
core   +1 more source

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-Quality Genome-Scale Models From Error-Prone, Long-Read Assemblies

Frontiers in Microbiology, 2020
Advances in nanopore-based sequencing techniques have enabled rapid characterization of genomes and transcriptomes. An emerging application of this sequencing technology is point-of-care characterization of pathogenic bacteria.
Jared T. Broddrick, Richard Szubin, Charles J. Norsigian, Jonathan M. Monk, Bernhard O. Palsson, Mary N. Parenteau   +5 more
doaj   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Transcriptome analysis of interna rootlets of the rhizocephalan Parasacculina sinensis reveals potential mechanisms of parasite host control

BMC Genomics
Background The endoparasitic rhizocephalan Parasacculina sinensis has a radically simplified morphology and primarily infests decapods crustaceans. Rhizocephalan barnacles usually absorb nutrients from the host through a complex rootlet system (the ...
Wenjie Li, Yiheng Feng, Haocheng Liu, Niklas Dreyer, Yue Him Wong   +4 more
doaj   +1 more source

SVIM: Structural Variant Identification using Mapped Long Reads

, 2019
Motivation: Structural variants are defined as genomic variants larger than 50bp. They have been shown to affect more bases in any given genome than SNPs or small indels. Additionally, they have great impact on human phenotype and diversity and have been
Heller, D., Vingron, M.
core   +1 more source