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Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
BackgroundLong-read whole genome sequencing (lrWGS) has the potential to address the technical limitations of exome sequencing in ways not possible...
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Long-read whole-genome analysis of human single cells
Long-read sequencing has dramatically increased our understanding of human genome variation. Here, we demonstrate that long-read technology can give...
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Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing
BackgroundFacioscapulohumeral muscular dystrophy (FSHD) is a high-prevalence autosomal dominant neuromuscular disease characterized by significant...
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Rapid detection of mutations and chromosomal rearrangements in T-DNA insertion mutants of Colletotrichum higginsianum using long-read whole-genome sequencing
Random mutagenesis is a useful tool for identifying genes of interest. Here, we used long-read whole-genome sequencing analysis to identify T-DNA...
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Whole-genome sequencing of Ganoderma boninense, the causal agent of basal stem rot disease in oil palm, via combined short- and long-read sequencing
The hemibiotrophic Basidiomycete pathogen Ganoderma boninense ( Gb ) is the dominant causal agent of oil palm basal stem rot disease. Here, we report a...
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Long-Read Whole-Genome Sequencing Using a Nanopore Sequencer and Detection of Structural Variants in Cancer Genomes
Long-read sequencing technologies enable us to precisely identify structural variants (SVs), which would be occasionally associated with various...
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Detection of four isomers of the human cytomegalovirus genome using nanopore long-read sequencing
Human cytomegalovirus has a linear DNA genome with a total length of approximately 235 kb. This large genome is divided into two domains, "Long" and...
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Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing
Joubert syndrome (JBTS) is characterized by a magnetic resonance imaging appearance called ‘molar tooth sign’, neonatal breathing dysregulation and...
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Unveiling microbial diversity: harnessing long-read sequencing technology
Long-read sequencing has recently transformed metagenomics, enhancing strain-level pathogen characterization, enabling accurate and complete...
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Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases
BackgroundHaploinsufficiency of the transcription factor PAX6 is the main cause of congenital aniridia, a genetic disorder characterized by iris and...
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Decoil: Reconstructing Extrachromosomal DNA Structural Heterogeneity from Long-Read Sequencing Data
Circular extrachromosomal DNA (ecDNA) is a form of oncogene amplification found across cancer types and associated with poor outcome in patients....
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High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders
Exome sequencing (ES) has become the method of choice for diagnosing rare diseases, while the availability of short-read genome sequencing (SR-GS) in...
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Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics
Leukemias are genetically heterogeneous and diagnostics therefore includes various standard-of-care (SOC) techniques, including karyotyping,...
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The application of long-read sequencing in clinical settings
Long-read DNA sequencing technologies have been rapidly evolving in recent years, and their ability to assess large and complex regions of the genome...
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CoRAL Accurately Resolves Extrachromosomal DNA Genome Structures with Long-Read Sequencing
Extrachromosomal DNA (ecDNA) is a central mechanism of focal oncogene amplification in cancer and can drive tumor formation, evolution, and drug...
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Utility of long-read sequencing for All of Us
The All of Us (AoU) initiative aims to sequence the genomes of over one million Americans from diverse ethnic backgrounds to improve personalized...
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Genome analysis of Zoysia japonica ‘Yaji’ cultivar using PacBio long-read sequencing
The Zoysia japonica plant is a warm-season turfgrass and a horticultural crop used in various places and an important genetic resource because it is...
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Long-read sequencing for 29 immune cell subsets reveals disease-linked isoforms
Alternative splicing events are a major causal mechanism for complex traits, but they have been understudied due to the limitation of short-read...
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Long-read sequencing reveals the structural complexity of genomic integration of HPV DNA in cervical cancer cell lines
BackgroundCervical cancer (CC) causes more than 311,000 deaths annually worldwide. The integration of human papillomavirus (HPV) is a crucial genetic...
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Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes
Innovations in sequencing technology have led to the discovery of novel mutations that cause inherited diseases. However, many patients with...
