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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
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
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Annotation of Full-Length Long Noncoding RNAs with Capture Long-Read Sequencing (CLS). [PDF]
, 2021 Metazoan genomes produce thousands of long-noncoding RNAs (lncRNAs), of which just a small fraction have been well characterized. Understanding their biological functions requires accurate annotations, or maps of the precise location and structure of ...
Sílvia Carbonell Sala +10 more
core +1 more source
Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC
npj Genomic MedicineFamilial adenomatous polyposis (FAP) is caused by pathogenic germline variants in the tumor suppressor gene APC. Confirmation of diagnosis was not achieved by cancer gene panel and exome sequencing or custom array-CGH in a family with suspected FAP ...
Alexandra A. Baumann +17 more
doaj +2 more sources
Genome Analysis Methods using Long Read Nanopore Sequencing [PDF]
, 2021 Third-generation long-read technologies denote the latest progression in high throughput DNA and RNA sequence analysis. Complementing the widespread second-generation short-read platforms, long-read sequencing adds unique application opportunities by ...
Giesselmann, Pay +1 more
core +1 more source
Long-read whole genome sequencing of human T cells
, 2023 This dataset represent long read sequencing of single human T cells isolated from a human donor. The data set include Illumina whole genome sequencing of 16 single T cells and PacBio HiFi whole genome sequenicng of 5 single T cells
Joanna Hård (10518953) +1 more
core +2 more sources
Long-read sequencing in human genetics [PDF]
Medizinische Genetik, 2019 Abstract Sanger sequencing revolutionized molecular genetics 40 years ago. However, next-generation sequencing technologies became further game changers and shaped our current view on genome structure and function in health and disease.
Kraft, Florian, Kurth, Ingo
openaire +2 more sources
long-read-tools.org: an interactive catalogue of analysis methods for long-read sequencing data
, 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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Summary of the long-read sequencing data.
, 2023 (A) The sequencing depth (left) and reads N50 (right) of long-read data obtained from 21 pairs of tumor/ normal samples via nanopore sequencer. (B) Cumulative distribution of total bases (Y axis) over read length (X axis) for tumor/ normal samples.
Xiaohuan Lu (5583656) +9 more
core +1 more source