Results 11 to 20 of about 8,328,477 (294)
The application of long-read sequencing in clinical settings [PDF]
Human Genomics, 2023 Long-read DNA sequencing technologies have been rapidly evolving in recent years, and their ability to assess large and complex regions of the genome makes them ideal for clinical applications in molecular diagnosis and therapy selection, thereby ...
Josephine B. Oehler +4 more
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long-read-tools.org: an interactive catalogue of analysis methods for long-read sequencing data [PDF]
GigaScience, 2021 © The Author(s) 2021. Published by Oxford University Press GigaScience. BACKGROUND: The data produced by long-read third-generation sequencers have unique characteristics compared to short-read sequencing data, often requiring tailored analysis tools for
ME Ritchie (9757601) +2 more
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Deciphering transcriptome complexity via long‐read sequencing [PDF]
iMetaTranscriptomics is moving beyond gene‐level quantification toward isoform‐resolved interrogation of alternative splicing, transcript structural variation, and repeat‐derived transcription.
Chuwen Xu +21 more
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Long-Read Nanopore-Based Sequencing of Anelloviruses
VirusesRoutinely used metagenomic next-generation sequencing (mNGS) techniques often fail to detect low-level viremia (
Raghavendran Anantharam +6 more
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mSystems, 2022 Long-read sequencing offers the potential to improve metagenome assemblies and provide more robust assessments of microbial community composition and function than short-read sequencing.
N. V. Patin, K. D. Goodwin
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Genome sequencing using long-read sequencing
Revista de la Academia Colombiana de Ciencias Exactas, Físicas y Naturales, 2023 Juan Guillermo McEwen +1 more
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Applications of long-read sequencing to Mendelian genetics
Genome Medicine, 2023 Advances in clinical genetic testing, including the introduction of exome sequencing, have uncovered the molecular etiology for many rare and previously unsolved genetic disorders, yet more than half of individuals with a suspected genetic disorder ...
Francesco Kumara Mastrorosa +2 more
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Why Are Long-Read Sequencing Methods Revolutionizing Microbiome Analysis?
MicroorganismsMost of the knowledge available on the composition and functionality of microbial communities in different ecosystems comes from short-read sequencing methods.
Adriana González +2 more
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Application of long-read sequencing to the detection of structural variants in human cancer genomes
Computational and Structural Biotechnology Journal, 2021 In recent years, the so-called long-read sequencing technology has had a substantial impact on various aspects of genome sciences. Here, we introduce recent studies of cancerous structural variants (SVs) using long-read sequencing technologies, namely ...
Yoshitaka Sakamoto +4 more
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Long-read sequencing for diagnosis of genetic myopathies
BMJ Neurology OpenGenetic myopathies are caused by pathogenic variants in >300 genes across the nuclear and mitochondrial genomes. Although short-read next-generation sequencing (NGS) has revolutionised the diagnosis of genetic disorders, large and/or complex genetic ...
Gianina Ravenscroft +9 more
doaj +3 more sources