Results 31 to 40 of about 23,440 (247)

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

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

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

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

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

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

Metabarcoding with Illumina and Oxford Nanopore Technologies provides complementary insights into tree seed mycobiota. [PDF]

Environ Microbiome
Abstract Background Culturing of fungi is labor-intensive and reveals limited diversity, while high-throughput sequencing of barcodes (i.e., metabarcoding) enables a simultaneous detection of fungi from multiple environmental samples.
Mittelstrass J, Heinzelmann R, Eschen R, Hartmann M, Kupper Q, Schneider S, Prospero S, Franić I.   +7 more
europepmc   +5 more sources

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

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