Results 11 to 20 of about 7,946,195 (290)
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
doaj +7 more sources
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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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
doaj +3 more sources
The Application of Long-Read Sequencing to Cancer
CancersCancer is a multifaceted disease arising from numerous genomic aberrations that have been identified as a result of advancements in sequencing technologies.
Ermini, Luca, Driguez, Henry Patrick
core +5 more sources
Genome sequencing using long-read sequencing
Revista de la Academia Colombiana de Ciencias Exactas, Físicas y Naturales, 2023 Juan Guillermo McEwen +1 more
doaj +2 more sources
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
doaj +3 more sources
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
Improving Bacterial Metagenomic Research through Long-Read Sequencing
MicroorganismsMetagenomic sequencing analysis is central to investigating microbial communities in clinical and environmental studies. Short-read sequencing remains the primary approach for metagenomic research; however, long-read sequencing may offer advantages of ...
Noah Greenman +4 more
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Nanopore long-read sequencing of circRNAs [PDF]
Methods, 2021 Circular RNA (circRNA) is a group of highly stable RNA molecules with suggested roles in development and disease. They derive from linear pre-mRNAs when a 5'-splice site splices back to an upstream 3'-splice site in a process termed back-splicing. Most circRNAs are multi-exonic and may contain several thousand nucleotides.
Rahimi, Karim +3 more
openaire +3 more sources
, 2022 Alternative splicing can lead to distinct protein isoforms. These can have different functions in specific cells and tissues or in different developmental stages.
Aidan P. Tay (1538278) +4 more
core +4 more sources