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1474 results

Full text 2020

Long-read sequencing for non-small-cell lung cancer genomes

Sakamoto Y, Xu L, Seki M, et al.

Here, we report the application of a long-read sequencer, PromethION, for analyzing human cancer genomes. We first conducted whole-genome sequencing on lung cancer cell lines. We found that it is possible to genotype known cancerous …

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Nanopore Sequencing
Full text 2020

Opportunities and challenges in long-read sequencing data analysis

Amarasinghe SL, Su S, Dong X, et al.

Long-read technologies are overcoming early limitations in accuracy and throughput, broadening their application domains in genomics. Dedicated analysis tools that take into account the characteristics of long-read data are thus required, but the fast pace …

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Nanopore Sequencing
Full text 2022

GRAde: a long-read sequencing approach to efficiently identifying the CYP11B1/CYP11B2 chimeric form in patients with glucocorticoid-remediable aldosteronism

Wu YC, Chen CI, Chen PY, et al.

<h4>Background</h4>Glucocorticoid-remediable aldosteronism (GRA) is a form of heritable hypertension caused by a chimeric fusion resulting from unequal crossing over between 11β-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2), which are two genes with similar sequences. Different crossover …

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Nanopore Sequencing
Full text 2023

Using a combination of short- and long-read sequencing to investigate the diversity in plasmid- and chromosomally encoded extended-spectrum beta-lactamases (ESBLs) in clinical <i>Shigella</i> and <i>Salmonella</i> isolates in Belgium

Berbers B, Vanneste K, Roosens NHCJ, et al.

For antimicrobial resistance (AMR) surveillance, it is important not only to detect AMR genes, but also to determine their plasmidic or chromosomal location, as this will impact their spread differently. Whole-genome sequencing (WGS) is increasingly …

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Nanopore Sequencing
Full text 2022

Presence of <i>optrA-</i>mediated linezolid resistance in multiple lineages and plasmids of <i>Enterococcus faecalis</i> revealed by long read sequencing

McHugh MP, Parcell BJ, Pettigrew KA, et al.

Transferable linezolid resistance due to <i>optrA</i>, <i>poxtA</i>, <i>cfr</i> and <i>cfr</i>-like genes is increasingly detected in enterococci associated with animals and humans globally. We aimed to characterize the genetic environment of <i>optrA</i> in linezolid-resistant <i>Enterococcus faecalis</i> …

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Nanopore Sequencing
Full text 2022

Population-scale long-read sequencing uncovers transposable elements associated with gene expression variation and adaptive signatures in Drosophila

Rech GE, Radío S, Guirao-Rico S, et al.

High quality reference genomes are crucial to understanding genome function, structure and evolution. The availability of reference genomes has allowed us to start inferring the role of genetic variation in biology, disease, and biodiversity conservation. …

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Nanopore Sequencing Structural Variants