Results 41 to 50 of about 25,431 (290)

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

Resolving complex structural variants via nanopore sequencing

Frontiers in Genetics, 2023
The recent development of high-throughput sequencing platforms provided impressive insights into the field of human genetics and contributed to considering structural variants (SVs) as the hallmark of genome instability, leading to the establishment of ...
Simone Romagnoli, Niccolò Bartalucci, Alessandro Maria Vannucchi   +2 more
doaj   +1 more source

Accurate profiling of forensic autosomal STRs using the Oxford Nanopore Technologies MinION device [PDF]

Forensic Science International: Genetics, 2021
Abstract The high variability characteristic of short tandem repeat (STR) markers is harnessed for human identification in forensic genetic analyses. Despite the power and reliability of current typing techniques, sequence-level information both within and around STRs are masked in the length-based profiles generated.
Courtney L. Hall, Rupesh K. Kesharwani, Nicole R. Phillips, John V. Planz, Fritz J. Sedlazeck, Roxanne R. Zascavage   +5 more
openaire   +3 more sources

Absence of evidence is not evidence of absence: Nanopore sequencing and complete assembly of the European lobster (Homarus gammarus) mitogenome uncovers the missing nad2 and a new major gene cluster duplication

BMC Genomics, 2019
Background The recently published complete mitogenome of the European lobster (Homarus gammarus) that was generated using long-range PCR exhibits unusual gene composition (missing nad2) and gene rearrangements among decapod crustaceans with strong ...
Han Ming Gan, Frederic Grandjean, Tom L. Jenkins, Christopher Mervyn Austin   +3 more
doaj   +1 more source

Evaluation of strategies for the assembly of diverse bacterial genomes using MinION long-read sequencing

BMC Genomics, 2019
Background Short-read sequencing technologies have made microbial genome sequencing cheap and accessible. However, closing genomes is often costly and assembling short reads from genomes that are repetitive and/or have extreme %GC content remains ...
Sarah Goldstein, Lidia Beka, Joerg Graf, Jonathan L. Klassen   +3 more
doaj   +1 more source

The Complete Genome Resource of Xanthomonas oryzae pv. oryzae CIX2779 Includes the First Sequence of a Plasmid for an African Representative of This Rice Pathogen

Molecular Plant-Microbe Interactions, 2023
The bacterial plant pathogen Xanthomonas oryzae pv. oryzae is responsible for the foliar rice bacterial blight disease. Genetically contrasted, continent-specific, sublineages of this species can cause important damages to rice production both in Asia ...
Coline Sciallano, Florence Auguy, Gabriel Boulard, Boris Szurek, Sébastien Cunnac   +4 more
doaj   +1 more source

LongQC: A Quality Control Tool for Third Generation Sequencing Long Read Data

G3: Genes, Genomes, Genetics, 2020
We propose LongQC as an easy and automated quality control tool for genomic datasets generated by third generation sequencing (TGS) technologies such as Oxford Nanopore technologies (ONT) and SMRT sequencing from Pacific Bioscience (PacBio).
Yoshinori Fukasawa, Luca Ermini, Hai Wang, Karen Carty, Min-Sin Cheung   +4 more
doaj   +1 more source

DNA origami nanopores: an emerging tool in biomedicinet

, 2013
Editorial.The authors acknowledge support from an ERC starting grant and from Oxford Nanopore Technologies® (www.nanoporetech.com).Peer ...
Hernández-Ainsa, Silvia, Keyser, Ulrich F.   +1 more
core   +1 more source

Nanopore Sequencing in Blood Diseases: A Wide Range of Opportunities

Frontiers in Genetics, 2020
The molecular pathogenesis of hematological diseases is often driven by genetic and epigenetic alterations. Next-generation sequencing has considerably increased our genomic knowledge of these disorders becoming ever more widespread in clinical practice.
Crescenzio Francesco Minervini, Cosimo Cumbo, Paola Orsini, Luisa Anelli, Antonella Zagaria, Giorgina Specchia, Francesco Albano   +6 more
doaj   +1 more source

Comparison of an Oxford Nanopore Technologies Sequencing Platform to Existing Sequencing Methods for Differential Expression Studies

, 2022
As the genomics revolution continues, there is constant pressure to make sequencing technology more accessible and practical for a growing series of applications.
Klier, Nikola
core   +1 more source